homogentisic acid has been researched along with Alcaptonuria in 181 studies
Homogentisic Acid: Dihydroxyphenylacetic acid with hydroxyls at the 2 and 5 positions of the phenyl ring.
homogentisic acid : A dihydroxyphenylacetic acid having the two hydroxy substituents at the 2- and 5-positions.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Alkaptonuria is a rare, genetic, multisystem disease characterised by the accumulation of homogentisic acid (HGA)." | 9.34 | Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. ( Arnoux, JB; Braconi, D; Briggs, M; Bröijersén, A; Bygott, H; Cox, TF; Davison, AS; Dillon, JP; Fisher, M; FitzGerald, R; Gallagher, JA; Genovese, F; Glasova, H; Hall, AK; Hughes, AT; Hughes, JH; Imrich, R; Jarvis, JC; Khedr, M; Laan, D; Le Quan Sang, KH; Loftus, N; Luangrath, E; Lukáčová, O; Milan, AM; Mistry, A; Mlynáriková, V; Norman, BP; Olsson, B; Psarelli, EE; Ranganath, LR; Rhodes, NP; Rovenský, J; Rudebeck, M; Santucci, A; Scott, C; Sedláková, J; Shweihdi, E; Sireau, N; Stančík, R; Szamosi, J; Taylor, S; van Kan, C; Vinjamuri, S; Vrtíková, E; Webb, C; West, E; Záňová, E; Zatkova, A, 2020) |
| "Nitisinone decreases homogentisic acid (HGA) in Alkaptonuria (AKU) by inhibiting the tyrosine metabolic pathway in humans." | 9.30 | Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria. ( Cox, TF; Davison, AS; Gallagher, JA; Hughes, AT; Khedr, M; Milan, AM; Psarelli, EE; Ranganath, LR; Rhodes, NP; Rovensky, J, 2019) |
| "Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1) was an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study." | 9.22 | Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid ( Ayoob, H; Braconi, D; Briggs, MC; Bygott, H; Christensen, P; Cox, TF; Cronlund, A; Dutton, JJ; Fitzgerald, R; Gallagher, JA; Genovese, F; Hall, AK; Hughes, AT; Imrich, R; Jarvis, JC; Junestrand, C; Kullenberg, T; Laan, D; Le Quan Sang, KH; McCaffrey, J; Milan, AM; Nemethova, M; Olsson, B; Psarelli, EE; Ranganath, LR; Ross, G; Rovensky, J; Rudebeck, M; Santucci, A; Sireau, N; Svensson, L; Szamosi, J; Timmis, OG; van Kan, C; Zatkova, A, 2016) |
| "Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway." | 9.15 | A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. ( Bernardini, I; Bryant, J; Gahl, WA; Introne, WJ; Kayser, MA; Moylan, E; O'Brien, KE; Perry, MB; Reynolds, JC; Sachdev, V; Suwannarat, P; Troendle, J; Tsilou, E, 2011) |
| "Alkaptonuria (AKU) is an ultra-rare genetic disease caused by a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) leading to the accumulation of homogentisic acid (HGA) on connective tissues." | 8.12 | Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria. ( Bernardini, G; Braconi, D; Cicaloni, V; Galderisi, S; Giustarini, D; Lupetti, P; Milella, MS; Millucci, L; Prischi, F; Rossi, M; Rossi, R; Salvini, L; Santucci, A; Spiga, O; Tinti, C; Tinti, L, 2022) |
| "Clinicians require simple quantitative tools for the detection of homogentisic acid in alkaptonuria patients, a rare inherited disorder of amino acid metabolism." | 8.02 | Homogentisic Acid-Based Whole-Cell Biosensor for Detection of Alkaptonuria Disease. ( Bhatt, A; Dhyani, R; Hussain, A; Jain, S; Navani, NK; Shankar, K, 2021) |
| " Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis." | 7.96 | Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria. ( Arnoux, JB; Braconi, D; Bygott, H; Davison, AS; Fitzgerald, R; Gallagher, JA; Genovese, F; Glasova, H; Hughes, AT; Hughes, JH; Imrich, R; Jarvis, JC; Khedr, M; Laan, D; Le Quan Sang, KH; Luangrath, E; Mankowitz, L; Milan, AM; Norman, BP; Olsson, B; Psarelli, EE; Ranganath, LR; Rhodes, NP; Rudebeck, M; Santucci, A; Shweihdi, E; Sireau, N; Stančík, R; van Kan, C; Zatkova, A, 2020) |
| "Alkaptonuria (AKU) is a disease caused by a deficient homogentisate 1,2-dioxygenase activity leading to systemic accumulation of homogentisic acid (HGA), that forms a melanin-like polymer that progressively deposits onto connective tissues causing a pigmentation called "ochronosis" and tissue degeneration." | 7.91 | Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. ( Bernardini, G; Braconi, D; Consumi, M; Galderisi, S; Giorgetti, G; Leone, G; Lupetti, P; Magnani, A; Marzocchi, B; Millucci, L; Santucci, A; Spiga, O; Viti, C, 2019) |
| "Homogentisic acid (HGA) is a diagnostic metabolite that accumulates in the urine and tissues of patients with alkaptonuria which is a rare autosomal recessive disease." | 7.88 | Determination of homogentisic acid in urine for diagnosis of alcaptonuria: Capillary electrophoretic method optimization using experimental design. ( Balta, GS; Cansever, MŞ; Öztekin, N, 2018) |
| "Nitisinone decreases homogentisic acid (HGA), but has not been shown to modify progression of Alkaptonuria (AKU)." | 7.88 | Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. ( Barton, GJ; Briggs, M; Cox, TF; Daroszewska, A; Davison, AS; Devine, JM; Dillon, JP; Fisher, M; Gallagher, JA; Griffin, R; Harrold, J; Hughes, AT; Hughes, G; Jarvis, JC; Jones, A; Judd, S; Khedr, M; Loftus, N; McCormick, M; Milan, AM; Psarelli, EE; Ranganath, LR; Sireau, N; Taylor, S; Usher, JL; Vinjamuri, S; West, E, 2018) |
| "Alkaptonuria (AKU) is an ultra-rare genetic disease, in which the accumulation of a toxic metabolite, homogentisic acid (HGA) leads to the systemic development of ochronotic aggregates." | 7.85 | Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signaling and primary cilium length in alkaptonuria. ( Bernardini, G; Braconi, D; Gambassi, S; Geminiani, M; Knight, MM; Manetti, F; Millucci, L; Orlandini, M; Petricci, E; Santucci, A; Taddei, M; Thompson, CL; Thorpe, SD, 2017) |
| "Background Alkaptonuria is a rare, debilitating autosomal recessive disorder affecting tyrosine metabolism." | 7.85 | The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. ( Curtis, S; Davison, AS; Devine, J; Gallagher, JA; Hughes, AT; Khedr, M; Milan, AM; Ranganath, LR; Usher, J, 2017) |
| "Alkaptonuria (AKU) is a rare multisystem metabolic disease caused by deficient activity of homogentisate 1,2-dioxygenase (HGD), which leads to the accumulation of homogentisic acid (HGA)." | 7.83 | Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria. ( Bernardini, G; Botta, M; Braconi, D; Dreassi, E; Geminiani, M; Laschi, M; Manetti, F; Marzocchi, B; Millucci, L; Santucci, A, 2016) |
| "Alkaptonuria is a rare debilitating autosomal recessive disorder of tyrosine metabolism, where deficiency of homogentisate 1,2-dioxygenase results in increased homogentisic acid." | 7.81 | Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry. ( Christensen, P; Davison, AS; Dutton, JJ; Gallagher, JA; Hughes, AT; Milan, AM; Ranganath, LR; Ross, G, 2015) |
| "We have assessed the effect of elevated concentrations of homogentisic acid (HGA) as in alkaptonuria (AKU), on a range of routine chemistry tests in serum and urine." | 7.80 | Interferences of homogentisic acid (HGA) on routine clinical chemistry assays in serum and urine and the implications for biochemical monitoring of patients with alkaptonuria. ( Curtis, SL; Ranganath, LR; Roberts, NB, 2014) |
| " Such a deficiency leads to the accumulation of homogentisic acid (HGA) and its oxidized/polymerized products in connective tissues, where melanin-like pigments accumulate (ochronosis)." | 7.77 | Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis. ( Bernardini, G; Bianchini, C; Braconi, D; Laschi, M; Millucci, L; Santucci, A; Spreafico, A, 2011) |
| "Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of cardiac valves." | 7.75 | Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. ( Bernardini, I; Fischer, R; Gahl, WA; Huizing, M; Introne, W; Kayser, M; Kleta, R; O'Brien, K; Suwannarat, P; Vilboux, T, 2009) |
| "Alkaptonuria, a rare autosomal recessive disorder caused by mutations in the HGD gene and deficiency of homogentisate 1,2 dioxygenase, is characterized by ochronosis, arthritis, and daily excretion of gram quantities of homogentisic acid (HGA)." | 7.73 | Use of nitisinone in patients with alkaptonuria. ( Bernardini, I; Gahl, WA; Gerber, LH; Kaiser-Kupfer, MI; O'Brien, K; Perry, MB; Rubin, BI; Sebring, N; Suwannarat, P; Tsilou, E, 2005) |
| "Alkaptonuria is a rare autosomal recessive disorder characterized by homogentisic aciduria, ochronosis, and arthritis." | 7.70 | A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. ( Maeda, Y; Oda, K; Suzuki, T; Suzuki, Y; Yoshikawa, Y, 1999) |
| "Urinary excretion of uric acid was found to be extremely low in a 58-year-old female patient with alcaptonuria." | 7.70 | 'Pseudohypouricosuria' in alcaptonuria: homogentisic acid interference in the measurement of urinary uric acid with the uricase-peroxidase reaction. ( Higashino, K; Moriwaki, Y; Nasako, Y; Ohata, H; Takahashi, S; Tsutsumi, Z; Yamakita, J; Yamamoto, T, 1999) |
| "When urine samples from alkaptonuria patients are allowed to stand, they turn black, presumably owing to the oxidation of homogentisic acid to a melanin-like substance." | 7.68 | Characterization of the pigment from homogentisic acid and urine and tissue from an alkaptonuria patient. ( Basu, PK; Felix, CC; Haberman, HF; Kalyanaraman, B; Menon, IA; Norfray, JF; Persad, SD, 1991) |
| "The metabolic disorder, alkaptonuria, is distinguished by elevated serum levels of 2,5-dihydroxyphenylacetic acid (homogentisic acid), pigmentation of cartilage and connective tissue and, ultimately, the development of inflammatory arthritis." | 7.67 | Homogentisic acid autoxidation and oxygen radical generation: implications for the etiology of alkaptonuric arthritis. ( Batkoff, B; Martin, JP, 1987) |
| "Urinalysis of alkaptonuria using NMR spectroscopy revealed the abnormal amount of homogentisic acid." | 7.67 | Diagnosis of alkaptonuria by NMR urinalysis: rapid qualitative and quantitative analysis of homogentisic acid. ( Koda, N; Ohashi, T; Yamaguchi, S, 1986) |
| "Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity." | 6.61 | Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review. ( Gallagher, JA; Norman, BP; Ranganath, LR, 2019) |
| "Alkaptonuria is an inherited disease caused by homogentisate 1,2-dioxygenase (HGD) deficiency." | 5.51 | Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. ( Bou-Gharios, G; Gallagher, JA; Hughes, AT; Hughes, JH; Keenan, CM; Liu, K; Milan, AM; Norman, BP; Plagge, A; Ranganath, LR; Sakai, T; Sutherland, H; Wilson, PJM, 2019) |
| "Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic acid (HGA) in organs, which occurs because the homogentisate 1,2-dioxygenase (HGD) enzyme is not functional due to gene variants." | 5.41 | Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria. ( Bernini, A; Santucci, A; Spiga, O, 2023) |
| "Alkaptonuria (AKU) is an ultra-rare inherited inborn error of metabolism that afflicts the tyrosine metabolic pathway, resulting in the accumulation of homogentisic acid (HGA) in the circulation, and significant excretion in urine." | 5.41 | Alkaptonuria - Past, present and future. ( Davison, AS; Norman, BP, 2023) |
| "Alkaptonuria is a rare, genetic, multisystem disease characterised by the accumulation of homogentisic acid (HGA)." | 5.34 | Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. ( Arnoux, JB; Braconi, D; Briggs, M; Bröijersén, A; Bygott, H; Cox, TF; Davison, AS; Dillon, JP; Fisher, M; FitzGerald, R; Gallagher, JA; Genovese, F; Glasova, H; Hall, AK; Hughes, AT; Hughes, JH; Imrich, R; Jarvis, JC; Khedr, M; Laan, D; Le Quan Sang, KH; Loftus, N; Luangrath, E; Lukáčová, O; Milan, AM; Mistry, A; Mlynáriková, V; Norman, BP; Olsson, B; Psarelli, EE; Ranganath, LR; Rhodes, NP; Rovenský, J; Rudebeck, M; Santucci, A; Scott, C; Sedláková, J; Shweihdi, E; Sireau, N; Stančík, R; Szamosi, J; Taylor, S; van Kan, C; Vinjamuri, S; Vrtíková, E; Webb, C; West, E; Záňová, E; Zatkova, A, 2020) |
| "Nitisinone decreases homogentisic acid (HGA) in Alkaptonuria (AKU) by inhibiting the tyrosine metabolic pathway in humans." | 5.30 | Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria. ( Cox, TF; Davison, AS; Gallagher, JA; Hughes, AT; Khedr, M; Milan, AM; Psarelli, EE; Ranganath, LR; Rhodes, NP; Rovensky, J, 2019) |
| "Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1) was an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study." | 5.22 | Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid ( Ayoob, H; Braconi, D; Briggs, MC; Bygott, H; Christensen, P; Cox, TF; Cronlund, A; Dutton, JJ; Fitzgerald, R; Gallagher, JA; Genovese, F; Hall, AK; Hughes, AT; Imrich, R; Jarvis, JC; Junestrand, C; Kullenberg, T; Laan, D; Le Quan Sang, KH; McCaffrey, J; Milan, AM; Nemethova, M; Olsson, B; Psarelli, EE; Ranganath, LR; Ross, G; Rovensky, J; Rudebeck, M; Santucci, A; Sireau, N; Svensson, L; Szamosi, J; Timmis, OG; van Kan, C; Zatkova, A, 2016) |
| "Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway." | 5.15 | A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. ( Bernardini, I; Bryant, J; Gahl, WA; Introne, WJ; Kayser, MA; Moylan, E; O'Brien, KE; Perry, MB; Reynolds, JC; Sachdev, V; Suwannarat, P; Troendle, J; Tsilou, E, 2011) |
| "Ochronosis and alkaptonuria are manifestations of the same condition-a rare autosomal recessive disorder resulting from a constitutional lack of homogentisate 1,2-dioxygenase (HGD) with the consequent accumulation of homogentisic acid (HGA)." | 5.12 | A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature. ( Bracken, SJ; Chu, P; Cuellar, MC; Tarrant, TK, 2021) |
| "Alkaptonuria is a genetic disorder characterized by an accumulation of homogentisic acid due to an enzymatic defect of homogentisate 1,2 dioxygenase." | 4.91 | Renal and prostate stones composition in alkaptonuria: a case report. ( Biaou, I; Cotton, F; Koopmansch, C; Pozdzik, A; Roumeguère, T; Vanden Bossche, M; Wolff, F, 2015) |
| "Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized homogentisic acid and its oxidized product in various tissues, including the heart." | 4.89 | Alkaptonuria-associated aortic stenosis. ( Goldstein, J; Lok, ZS; Smith, JA, 2013) |
| "Alkaptonuria (AKU) is a very rare autosomal recessive disorder of tyrosine metabolism in the liver due to deficiency of homogentisate 1,2 dioxygenase (HGD) activity, resulting in the accumulation of homogentisic acid (HGA)." | 4.89 | Alkaptonuria: a very rare metabolic disorder. ( Aquaron, R, 2013) |
| "Alkaptonuria is a rare autosomal recessive metabolic disease that leads to the deposition of homogentisic acid." | 4.84 | Alkaptonuria presenting with ochronotic spondyloarthropathy. ( Al-Mahfoudh, R; Buxton, N; Clark, S, 2008) |
| " A diagnosis of ochronosis was made by the observation of bluish-brown pigmentation in the nose and ears, dark urine colors following alkalization, and high levels of homogentisic acid in the urine." | 4.84 | Ochronosis in differential diagnosis of patients with chronic backache: a review of the literature. ( Capkin, E; Karkucak, M; Serdaroğlu, M; Tosun, M; Yayli, S, 2007) |
| " 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent deposition as pigment in connective tissues called ochronosis." | 4.31 | Nutritional interventions for patients with alkaptonuria: A minireview. ( Havranova, A; Imrich, R; Lukacova, O; Penesova, A; Radikova, Z; Ranganath, L; Sedlakova, J; Vlcek, M; Zanova, E; Zatkova, A, 2023) |
| "Alkaptonuria (AKU) is a rare genetic autosomal recessive disorder characterized by elevated serum levels of homogentisic acid (HGA)." | 4.31 | Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy. ( Dera, AA; Hussain, N; Khan, I; Ogaly, HA; Rana, N; Zaib, S, 2023) |
| " Urine organic acid analysis showed elevation in homogentisic acid consistent with alkaptonuria." | 4.31 | Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii). ( Booth, KTA; Fayette, MA; Luna, C; Lynnes, TC; Miller, MJ; Minich, DJ; Wilson, TE, 2023) |
| "Alkaptonuria is a very rare disorder in which homogentisic acid accumulates due to a deficiency in the activity of homogentisic acid 1,2 dioxygenase." | 4.31 | Arthroscopic ankle arthrodesis in two alkaptonuria patients. ( Kanazawa, K; Tomonaga, S; Yamamoto, T; Yoshimura, I, 2023) |
| "Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic pigment that deposits in the connective tissue (ochronosis), eventually leading to early-onset severe arthropathy." | 4.12 | Alkaptonuria in Russia. ( Kuzin, A; Samarkina, E; Soltysova, A; Zatkova, A, 2022) |
| "Alkaptonuria (AKU) is an ultra-rare genetic disease caused by a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) leading to the accumulation of homogentisic acid (HGA) on connective tissues." | 4.12 | Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria. ( Bernardini, G; Braconi, D; Cicaloni, V; Galderisi, S; Giustarini, D; Lupetti, P; Milella, MS; Millucci, L; Prischi, F; Rossi, M; Rossi, R; Salvini, L; Santucci, A; Spiga, O; Tinti, C; Tinti, L, 2022) |
| "Alkaptonuria is a rare autosomal recessive genetic disorder resulting from the deficiency of homogentisate 1,2 dioxygenase (HGD), the third enzyme in the tyrosine degradation pathway." | 4.12 | Long-term follow-up of alkaptonuria patients: single center experience. ( Berdeli, A; Bozaci, AE; Canda, E; Coker, M; Guvenc, MS; Habif, S; Uçar, SK; Yazici, H, 2022) |
| "Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and tyrosine degradation." | 4.12 | Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria. ( Bernini, A; Galderisi, S; Geminiani, M; Grasso, D; Iacomelli, G; Marzocchi, B; Peruzzi, L; Santucci, A, 2022) |
| "Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic acid (HGA) in organs due to a deficiency in functional levels of the enzyme homogentisate 1,2-dioxygenase (HGD), required for the breakdown of HGA, because of mutations in the HGD gene." | 4.02 | A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria. ( Atrei, A; Baratto, MC; Bernini, A; Manetti, F; Petricci, E; Santucci, A, 2021) |
| "Alkaptonuria (AKU) is an ultra-rare disease caused by the deficient activity of homogentisate 1,2-dioxygenase enzyme, leading the accumulation of homogentisic acid (HGA) in connective tissues implicating the formation of a black pigmentation called "ochronosis." | 4.02 | Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage. ( Alves, LS; Cicaloni, V; Crevenna, AH; Galderisi, S; Geminiani, M; Milella, MS; Millucci, L; Salvini, L; Santucci, A; Spiga, O; Tinti, C; Tinti, L; Vieira, OV, 2021) |
| " This discoloration and early degeneration of the cartilage is characteristic for the metabolic disorder alkaptonuria in which homogentisic acid accumulates in the body." | 4.02 | [A male with black cartilage]. ( Verhaar, JAN; Visser, D, 2021) |
| "Clinicians require simple quantitative tools for the detection of homogentisic acid in alkaptonuria patients, a rare inherited disorder of amino acid metabolism." | 4.02 | Homogentisic Acid-Based Whole-Cell Biosensor for Detection of Alkaptonuria Disease. ( Bhatt, A; Dhyani, R; Hussain, A; Jain, S; Navani, NK; Shankar, K, 2021) |
| " Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis." | 3.96 | Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria. ( Arnoux, JB; Braconi, D; Bygott, H; Davison, AS; Fitzgerald, R; Gallagher, JA; Genovese, F; Glasova, H; Hughes, AT; Hughes, JH; Imrich, R; Jarvis, JC; Khedr, M; Laan, D; Le Quan Sang, KH; Luangrath, E; Mankowitz, L; Milan, AM; Norman, BP; Olsson, B; Psarelli, EE; Ranganath, LR; Rhodes, NP; Rudebeck, M; Santucci, A; Shweihdi, E; Sireau, N; Stančík, R; van Kan, C; Zatkova, A, 2020) |
| "Alkaptonuria (AKU) is a rare disease correlated with deficiency of the enzyme homogentisate 1,2 dioxygenase, which causes homogentisic acid (HGA) accumulation." | 3.96 | Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway. ( Bernardini, G; Giustarini, D; Marzocchi, B; Millucci, L; Rossi, R; Santucci, A; Schiavone, ML, 2020) |
| "Alkaptonuria (AKU) is a rare disease characterized by high levels of homogentisic acid (HGA); patients suffer from tissue ochronosis: dark brown pigmentation, especially of joint cartilage, leading to severe early osteoarthropathy." | 3.96 | Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. ( Bittl, R; Chow, WY; Duer, MJ; Gallagher, JA; Norman, BP; Oschkinat, H; Ranganath, LR; Roberts, NB; Teutloff, C, 2020) |
| "A highly sensitive method for determining urine homogentisic acid (HGA) is required to provide adequate diagnosis and therapy for alkaptonuria in early stages." | 3.96 | HPLC with electrochemical detection for determining homogentisic acid and its application to urine from rats fed tyrosine-enriched food. ( Hakamata, H; Kishi, T; Kotani, A; Umemura, T, 2020) |
| "Gentisic acid (GA), a metabolite of acetylsalicylic acid (ASA), and homogentisic acid (HGA), which is excreted at high levels in alkaptonuria, are divalent phenolic acids with very similar structures." | 3.96 | Novel absorbance peak of gentisic acid following the oxidation reaction. ( Ejima, Y; Hirakawa, E; Hosokawa, S; Morinishi, T; Ohsaki, H; Shimosawa, T; Shukuya, K; Sogabe, K; Tokuhara, Y, 2020) |
| "Alkaptonuria (AKU) is a rare metabolic disease correlated with the deficiency of homogentisate 1,2-dioxygenase and leading to an accumulation of the metabolite homogentisic acid (HGA) which can be subjected to oxidation and polymerization reactions." | 3.96 | Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria. ( Ferrara, F; Pambianchi, E; Pecorelli, A; Santucci, A; Schiavone, ML; Valacchi, G; Woodby, B, 2020) |
| "Alkaptonuria (AKU) is a disease caused by a deficient homogentisate 1,2-dioxygenase activity leading to systemic accumulation of homogentisic acid (HGA), that forms a melanin-like polymer that progressively deposits onto connective tissues causing a pigmentation called "ochronosis" and tissue degeneration." | 3.91 | Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. ( Bernardini, G; Braconi, D; Consumi, M; Galderisi, S; Giorgetti, G; Leone, G; Lupetti, P; Magnani, A; Marzocchi, B; Millucci, L; Santucci, A; Spiga, O; Viti, C, 2019) |
| "Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the enzyme homogentisic acid dioxygenase." | 3.91 | Endogenous ochronosis: when clinical suspicion prevails over histopathology. ( García-Briz, MI; Gegúndez-Hernández, H; Mateu-Puchades, A; Moneva-Léniz, LM; Pose-Lapausa, P; Sánchez-Martínez, EM, 2019) |
| "Homogentisic acid (HGA) is a diagnostic metabolite that accumulates in the urine and tissues of patients with alkaptonuria which is a rare autosomal recessive disease." | 3.88 | Determination of homogentisic acid in urine for diagnosis of alcaptonuria: Capillary electrophoretic method optimization using experimental design. ( Balta, GS; Cansever, MŞ; Öztekin, N, 2018) |
| "Nitisinone decreases homogentisic acid (HGA), but has not been shown to modify progression of Alkaptonuria (AKU)." | 3.88 | Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre. ( Barton, GJ; Briggs, M; Cox, TF; Daroszewska, A; Davison, AS; Devine, JM; Dillon, JP; Fisher, M; Gallagher, JA; Griffin, R; Harrold, J; Hughes, AT; Hughes, G; Jarvis, JC; Jones, A; Judd, S; Khedr, M; Loftus, N; McCormick, M; Milan, AM; Psarelli, EE; Ranganath, LR; Sireau, N; Taylor, S; Usher, JL; Vinjamuri, S; West, E, 2018) |
| "Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism characterized by homogentisic acid (HGA) accumulation due to a deficient activity of the homogentisate 1." | 3.85 | Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins. ( Bernardini, G; Bernini, A; Braconi, D; Lupetti, P; Marzocchi, B; Millucci, L; Niccolai, N; Santucci, A; Spiga, O, 2017) |
| "Alkaptonuria (AKU) is an ultra-rare genetic disease, in which the accumulation of a toxic metabolite, homogentisic acid (HGA) leads to the systemic development of ochronotic aggregates." | 3.85 | Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signaling and primary cilium length in alkaptonuria. ( Bernardini, G; Braconi, D; Gambassi, S; Geminiani, M; Knight, MM; Manetti, F; Millucci, L; Orlandini, M; Petricci, E; Santucci, A; Taddei, M; Thompson, CL; Thorpe, SD, 2017) |
| "Background Alkaptonuria is a rare, debilitating autosomal recessive disorder affecting tyrosine metabolism." | 3.85 | The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool. ( Curtis, S; Davison, AS; Devine, J; Gallagher, JA; Hughes, AT; Khedr, M; Milan, AM; Ranganath, LR; Usher, J, 2017) |
| "Alkaptonuria (AKU) is a rare inherited disease resulting from a deficiency of the enzyme homogentisate 1,2-dioxygenase which leads to the accumulation of homogentisic acid (HGA)." | 3.85 | Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. ( Chandrakumar, C; Gambassi, S; Knight, MM; Santucci, A; Thompson, CL; Thorpe, SD, 2017) |
| "Alkaptonuria is a rare autosomal recessive condition resulting from inability to breakdown homogentisic acid (HGA), an intermediate in tyrosine degradation." | 3.83 | A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. ( Bukhari, M; Jackson, DJ; Mistry, JB; Taylor, AM, 2016) |
| "Alkaptonuria (AKU) is a rare multisystem metabolic disease caused by deficient activity of homogentisate 1,2-dioxygenase (HGD), which leads to the accumulation of homogentisic acid (HGA)." | 3.83 | Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria. ( Bernardini, G; Botta, M; Braconi, D; Dreassi, E; Geminiani, M; Laschi, M; Manetti, F; Marzocchi, B; Millucci, L; Santucci, A, 2016) |
| "Alkaptonuria, or ochronosis, a rare autosomal recessive metabolic disorder, causes an excess of homogentisic acid that results in dark pigmentation, calcification, and inflammation of cartilaginous and other tissues." | 3.83 | Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis. ( Monferrer, R; Roca, B; Roca, M, 2016) |
| "Alkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogentisic acid oxidase, which results in excess homogentisic acid (HGA) levels." | 3.83 | Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy. ( Karaaslan, F; Karaoğlu, S; Mermerkaya, MU, 2016) |
| "Alkaptonuria is a rare debilitating autosomal recessive disorder of tyrosine metabolism, where deficiency of homogentisate 1,2-dioxygenase results in increased homogentisic acid." | 3.81 | Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry. ( Christensen, P; Davison, AS; Dutton, JJ; Gallagher, JA; Hughes, AT; Milan, AM; Ranganath, LR; Ross, G, 2015) |
| "Alkaptonuria is an ultra-rare autosomal recessive disease developed from the lack of homogentisate 1,2-dioxygenase (HGD) activity, causing an accumulation in connective tissues of homogentisic acid (HGA) and its oxidized derivatives in polymerized form." | 3.81 | Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria. ( Bernardini, G; Braconi, D; Geminiani, M; Laschi, M; Lupetti, P; Manetti, F; Millucci, L; Santucci, A; Vannuccini, E, 2015) |
| "We have assessed the effect of elevated concentrations of homogentisic acid (HGA) as in alkaptonuria (AKU), on a range of routine chemistry tests in serum and urine." | 3.80 | Interferences of homogentisic acid (HGA) on routine clinical chemistry assays in serum and urine and the implications for biochemical monitoring of patients with alkaptonuria. ( Curtis, SL; Ranganath, LR; Roberts, NB, 2014) |
| "Alkaptonuria, caused by a deficiency of homogentisate 1,2-dioxygenase, results in the accumulation of homogentisic acid (2,5-dihydroxyphenylacetic acid, HGA) in the urine." | 3.80 | Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria. ( Fujishiro, M; Ikeda, H; Inagaki, S; Ishige-Wada, M; Kurano, M; Mouri, M; Ohkawa, R; Okubo, S; Shimosawa, T; Shukuya, K; Takahashi, T; Tanaka, M; Tokuhara, Y; Usui, H; Yamaguchi, S; Yatomi, Y; Yokota, H, 2014) |
| "Alkaptonuria (AKU) is a rare debilitating autosomal recessive disorder of tyrosine metabolism." | 3.80 | Urine homogentisic acid and tyrosine: simultaneous analysis by liquid chromatography tandem mass spectrometry. ( Christensen, P; Davison, AS; Dutton, JJ; Gallagher, JA; Hughes, AT; Milan, AM; Ranganath, LR; Ross, G, 2014) |
| "Alkaptonuria is a rare inherited disorder of tyrosine metabolism, which results in deposition of homogentisic acid in the connective tissues." | 3.79 | Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria. ( Cullen, H; Markman, P; Thakur, S, 2013) |
| "Alkaptonuria is a rare metabolic disorder of tyrosine catabolism in which homogentisic acid (HGA) accumulates and is deposited throughout the spine, large joints, cardiovascular system, and various tissues throughout the body." | 3.78 | Aortic stenosis and vascular calcifications in alkaptonuria. ( Chen, MY; Gahl, WA; Hannoush, H; Introne, WJ; Kayser, MA; Lee, SJ; O'Brien, K; Sachdev, V; Suwannarat, P, 2012) |
| "Alkaptonuria (AKU) is an ultra-rare disease developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces a HGA-melanin ochronotic pigment, of unknown composition." | 3.78 | Alkaptonuria is a novel human secondary amyloidogenic disease. ( Amato, L; Benucci, M; Bernardini, G; Braconi, D; Chellini, F; Galeazzi, M; Ghezzi, L; Laschi, M; Lupetti, P; Mannoni, A; Millucci, L; Orlandini, M; Paccagnini, E; Santucci, A; Selvi, E; Spreafico, A; Tinti, L, 2012) |
| "Alkaptonuria (AKU) is a genetic disorder caused by lack of the enzyme responsible for breaking down homogentisic acid (HGA), an intermediate in tyrosine metabolism." | 3.77 | Development of an in vitro model to investigate joint ochronosis in alkaptonuria. ( Davidson, JS; Fraser, WD; Gallagher, JA; Jarvis, JC; Ranganath, LR; Santucci, A; Taylor, AM; Tinti, L; Wilson, PJ; Wlodarski, B, 2011) |
| " Alkaptonuria can result in accumulation of homogentisic acid." | 3.77 | Black aorta in a patient with alkaptonuria (ochronosis). ( Casali, G; Concistrè, G; Fiorani, B; Loforte, A; Musumeci, F; Ranocchi, F, 2011) |
| "Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis." | 3.77 | An update on molecular genetics of Alkaptonuria (AKU). ( Zatkova, A, 2011) |
| "Alkaptonuria (AKU) is due to excessive homogentisic acid accumulation in body fluids due to lack of enzyme homogentisate dioxygenase leading in turn to varied clinical manifestations mainly by a process of conversion of HGA to a polymeric melanin-like pigment known as ochronosis." | 3.77 | A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems. ( Cox, TF; Ranganath, L, 2011) |
| "Increased circulating homogentisic acid in body fluids occurs in alkaptonuria (AKU) due to lack of enzyme homogentisate dioxygenase leading in turn to conversion of HGA to a pigmented melanin-like polymer, known as ochronosis." | 3.77 | Natural history of alkaptonuria revisited: analyses based on scoring systems. ( Cox, TF; Ranganath, LR, 2011) |
| " Such a deficiency leads to the accumulation of homogentisic acid (HGA) and its oxidized/polymerized products in connective tissues, where melanin-like pigments accumulate (ochronosis)." | 3.77 | Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis. ( Bernardini, G; Bianchini, C; Braconi, D; Laschi, M; Millucci, L; Santucci, A; Spreafico, A, 2011) |
| "Alkaptonuria is a genetic disorder of tyrosine metabolism, resulting in elevated circulating concentrations of homogentisic acid." | 3.77 | The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria. ( Boyde, A; Davidson, JS; Gallagher, JA; Hunt, JA; Jarvis, JC; Ranganath, LR; Taylor, AM; Wilson, PJ, 2011) |
| " The finding of a massively elevated excretion of homogentisic acid (HGA) in the patient's urine confirmed the suspicion that the complaints were due to underlying alkaptonuria." | 3.76 | A metabolic cause of spinal deformity. ( Effelsberg, NM; Hügle, T; Walker, UA, 2010) |
| " This leads to the accumulation of homogentisic acid (HGA) and its oxidized/polymerized products in connective tissues, which in turn become characterized by the presence of melanin-like pigments (ochronosis)." | 3.76 | Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis. ( Amato, L; Bernardini, G; Braconi, D; Cavallo, G; Laschi, M; Marcolongo, R; Millucci, L; Santucci, A; Spreafico, A, 2010) |
| "Alkaptonuria is a rare, autosomal-recessive disease of tyrosine degradation resulting from accumulation of homogentisic acid (HGA) within the body due to deficiency of the hepatic enzyme homogentisate 1,2-dioxygenase[1]." | 3.76 | Ashy ears. ( Kintzoglou, S; Rallis, E, 2010) |
| " Homogentisic acid was present in the patient's urine sample, suggesting him to be suffering from Alkaptonuria." | 3.76 | Chronic low backache and stiffness may not be due ankylosing spondylitis. ( Ahmed, S; Ali, N; Shah, Z, 2010) |
| " Urine homogentisic acid level was elevated, which is diagnostic for alkaptonuria." | 3.76 | Alkaptonuria. ( Anolik, R; Pomeranz, MK; Yancovitz, M, 2010) |
| "Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of cardiac valves." | 3.75 | Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. ( Bernardini, I; Fischer, R; Gahl, WA; Huizing, M; Introne, W; Kayser, M; Kleta, R; O'Brien, K; Suwannarat, P; Vilboux, T, 2009) |
| "Alkaptonuria is a rare disorder of metabolism caused by deficiency of homogentisic acid oxidase enzyme and characterized by triad of homogentisic aciduria (dark urine), relentlessly progressive arthritis and ochronosis." | 3.74 | Alkaptonuria and intramedullary calcification. ( Dhiman, DS; Gupta, D; Kaushal, SS; Mahesh, DM; Negi, A; Raina, S; Sharma, S, 2008) |
| "All affected individuals presented with typical features of AKU including darkening of the urine, ochronosis, arthropathy, and elevated urinary excretion of homogentisic acid." | 3.74 | Three-generational alkaptonuria in a non-consanguineous family. ( Engel, K; Haas, D; Lee-Kirsch, MA; Oexle, K; Tinschert, S, 2008) |
| "Alkaptonuria, a rare autosomal recessive disorder caused by mutations in the HGD gene and deficiency of homogentisate 1,2 dioxygenase, is characterized by ochronosis, arthritis, and daily excretion of gram quantities of homogentisic acid (HGA)." | 3.73 | Use of nitisinone in patients with alkaptonuria. ( Bernardini, I; Gahl, WA; Gerber, LH; Kaiser-Kupfer, MI; O'Brien, K; Perry, MB; Rubin, BI; Sebring, N; Suwannarat, P; Tsilou, E, 2005) |
| "The deficiency of homogentisic acid oxidase, an enzyme that is mainly found in hepatocytes, is associated with alkaptonuria and ochronosis." | 3.73 | Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. ( Argin, M; Inal, V; Kobak, AC; Kobak, S; Oder, G, 2005) |
| "Alkaptonuria is a rare, autosomal recessive metabolic disorder in which the homogentisic acid oxidase activity is absent." | 3.73 | Ochronosis and lumbar disc herniation. ( Daneyemez, M; Gürkanlar, D; Solmaz, I; Temiz, C, 2006) |
| "To detect and follow-up the metabolic status of patients with alkaptonuria (AKU), urinary homogentisic acid (HGA) was measured by gas chromatography." | 3.72 | Urinary homogentisic acid in alkaptonuric and healthy children. ( Csízy, I; Llyés, I; Oláh, AV; Szoke, A; Tóth, J; Varga, J, 2003) |
| "Alkaptonuria is characterized by an increased urinary excretion of homogentisic acid, pigmentation of cartilage and connective tissues, and ultimately the development of inflammatory arthropathy." | 3.70 | The success of dietary protein restriction in alkaptonuria patients is age-dependent. ( Bakker, HD; Carbasius Weber, EC; de Haas, V; de Klerk, JB; Duran, M; Huijbers, WA; Poll-The, BT; Smit, GP, 1998) |
| "Alkaptonuria is a rare autosomal recessive disorder characterized by homogentisic aciduria, ochronosis, and arthritis." | 3.70 | A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. ( Maeda, Y; Oda, K; Suzuki, T; Suzuki, Y; Yoshikawa, Y, 1999) |
| "Alkaptonuria is a rare metabolic disease in which homogentisic acid deposits occur in various body tissues." | 3.70 | Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome. ( Stefanadis, C; Toutouzas, P; Triantafillidi, H; Vavuranakis, M, 1998) |
| "Urinary excretion of uric acid was found to be extremely low in a 58-year-old female patient with alcaptonuria." | 3.70 | 'Pseudohypouricosuria' in alcaptonuria: homogentisic acid interference in the measurement of urinary uric acid with the uricase-peroxidase reaction. ( Higashino, K; Moriwaki, Y; Nasako, Y; Ohata, H; Takahashi, S; Tsutsumi, Z; Yamakita, J; Yamamoto, T, 1999) |
| "A 75-year-old man was diagnosed with alcaptonuria by direct identification of homogentisic acid in the urine using gas chromatography-mass spectrometry." | 3.69 | Alcaptonuria: a case complicated with valvular heart disease and immunodeficiency. ( Fuji-i, H; Kakinuma, H; Kawaguchi, T; Koga, S; Mori, S; Nakakuma, H; Suzushima, H; Takatsuki, K; Tsuji, N, 1994) |
| "Alkaptonuria is a human hereditary metabolic disease characterized by a very high urinary excretion of homogentisic acid, an intermediary product in the metabolism of tyrosine, in association with ochronosis and arthritis." | 3.69 | aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16. ( Coudé, M; Forest, M; Guénet, JL; Kamoun, P; Lalouette, A; Montagutelli, X, 1994) |
| " The method appears to be very sensitive and may be useful in the characterization of heterozygotes for alkaptonuria and other disorders of tyrosine degradation." | 3.69 | Quantitation of homogentisic acid in normal human plasma. ( Deutsch, JC; Santhosh-Kumar, CR, 1996) |
| "The presence of homogentisic acid (HGA) in urine is diagnostic for alkaptonuria, a classical example of a biochemical lesion resulting from a single gene trait." | 3.69 | Spectrophotometric determination of homogentisate using Aspergillus nidulans homogentisate dioxygenase. ( Fernández-Cañón, JM; Peñalva, MA, 1997) |
| "When urine samples from alkaptonuria patients are allowed to stand, they turn black, presumably owing to the oxidation of homogentisic acid to a melanin-like substance." | 3.68 | Characterization of the pigment from homogentisic acid and urine and tissue from an alkaptonuria patient. ( Basu, PK; Felix, CC; Haberman, HF; Kalyanaraman, B; Menon, IA; Norfray, JF; Persad, SD, 1991) |
| "The metabolic disorder, alkaptonuria, is distinguished by elevated serum levels of 2,5-dihydroxyphenylacetic acid (homogentisic acid), pigmentation of cartilage and connective tissue and, ultimately, the development of inflammatory arthritis." | 3.67 | Homogentisic acid autoxidation and oxygen radical generation: implications for the etiology of alkaptonuric arthritis. ( Batkoff, B; Martin, JP, 1987) |
| "Urinalysis of alkaptonuria using NMR spectroscopy revealed the abnormal amount of homogentisic acid." | 3.67 | Diagnosis of alkaptonuria by NMR urinalysis: rapid qualitative and quantitative analysis of homogentisic acid. ( Koda, N; Ohashi, T; Yamaguchi, S, 1986) |
| "Alkaptonuria is a rare inherited disorder for which there was no disease-modifying treatment." | 3.01 | Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria-a mini-review. ( Ranganath, LR; Sireau, N, 2023) |
| "Alkaptonuria is a disease often forgotten because of its rarity." | 2.82 | Ochronotic arthropathy in the context of spondyloarthritis differential diagnosis: a case-based review. ( Batalov, A; Batalov, Z; Karalilova, R; Kostova, T, 2022) |
| "Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity." | 2.61 | Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review. ( Gallagher, JA; Norman, BP; Ranganath, LR, 2019) |
| "The alkaptonuria was diagnosed after histopathological examination of the black disc material." | 2.49 | Alkaptonuric patient presenting with "black" disc: a case report. ( Ergüngör, MF; Günaydin, A; Kahveci, R; Temiz, A, 2013) |
| "Alkaptonuria is a degenerative arthropathy that leads to reduction of functional ability." | 1.72 | [Ochronosis: A case report]. ( Erraoui, K; Janani, S; Nassar, K, 2022) |
| "Alkaptonuria is a rare autosomal recessive disease." | 1.62 | [Severe spine lesion following alkaptonuria. Case report]. ( Bludov, AB; Gorozhanin, AV; Krylov, AS; Kuzin, AV; Kuzin, DA; Radenska-Lopovok, SG; Smirnov, AV, 2021) |
| "Alkaptonuria is an autosomal recessive disorder caused by pathogenic variants in the HGD gene." | 1.56 | Assessment of Thyroid Function in Patients With Alkaptonuria. ( Auh, S; Avadhanula, S; Burman, KD; Ciccone, C; Filie, AC; Hannah-Shmouni, F; Introne, WJ; Klubo-Gwiezdzinska, J; Regier, D; Soldin, SJ; Stolze, B, 2020) |
| "Alkaptonuria is an inherited disease caused by homogentisate 1,2-dioxygenase (HGD) deficiency." | 1.51 | Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. ( Bou-Gharios, G; Gallagher, JA; Hughes, AT; Hughes, JH; Keenan, CM; Liu, K; Milan, AM; Norman, BP; Plagge, A; Ranganath, LR; Sakai, T; Sutherland, H; Wilson, PJM, 2019) |
| "Alkaptonuria is a congenital error of metabolism caused by the deficiency of homogentisic acid oxidase, which subsequently results in the accumulation of homogentisic acid (HGA) in body tissues." | 1.40 | A rare case of acquired methemoglobinemia associated with alkaptonuria. ( Aibara, K; Harayama, N; Ikeda, T; Irifukuhama, Y; Isa, Y; Kamochi, M; Matsumoto, H; Nagata, K; Nihei, S, 2014) |
| "Alkaptonuria is a rare autosomal recessive disorder of inborn errors of metabolism." | 1.32 | Alkaptonuria caused by compound heterozygote mutations. ( Aytuğ, AF; Elçioğlu, M; Elçioğlu, NH; Ergun, T; Gürbüz, O; Kotiloğlu, E; Müller, CR, 2003) |
| "Alkaptonuric ochronosis is rare disorder of tyrosin catabolism with an autosomal recessive trait." | 1.31 | [Ochronosis: a case report with multisystemic affectation, including pericardium]. ( Cobos Soler, FJ; Molero Cabrilla, R, 2002) |
| "Alcaptonuria is a rare hereditary disease, characterized by an abnormal blackish coloration of the urine and dark pigmentation of the conjunctive tissue which is due to a deficiency in homogentisate 1,2-dioxygenase (HGO), a phenylalanine catabolizing enzyme." | 1.31 | [Alkaptonuria: a rare cause of urine discoloration. Report of a case in a newborn]. ( Adonis-Koffy, L; Bensman, A; Gonzalès, E; Nathanson, S; Spodek, C, 2000) |
| "Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolised, due to a lack of the enzyme homogentisic acid oxidase." | 1.30 | [A child with dark discoloration of urine]. ( Jaarsma, AS; Jeucken, YM; van Spronsen, FJ; Visser, G, 1999) |
| "Alcaptonuria is a rare (incidence approx." | 1.29 | [Alkaptonuria and ochronotic arthropathy. Arthroscopic and intraoperative findings in implantation of a knee joint surface replacing prosthesis]. ( Lubinus, HH; Lubinus, P; Ramsperger, R, 1994) |
| "Alkaptonuria is found relatively frequently in Slovakia, Eastern Czechoslovakia (1 in 25,000 inhabitants)." | 1.26 | Alkaptonuria. ( Srsen, S, 1979) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 49 (27.07) | 18.7374 |
| 1990's | 20 (11.05) | 18.2507 |
| 2000's | 18 (9.94) | 29.6817 |
| 2010's | 54 (29.83) | 24.3611 |
| 2020's | 40 (22.10) | 2.80 |
| Authors | Studies |
|---|---|
| Soltysova, A | 1 |
| Kuzin, A | 1 |
| Samarkina, E | 1 |
| Zatkova, A | 6 |
| Gorozhanin, AV | 1 |
| Kuzin, AV | 1 |
| Bludov, AB | 1 |
| Radenska-Lopovok, SG | 1 |
| Smirnov, AV | 1 |
| Kuzin, DA | 1 |
| Krylov, AS | 1 |
| Bernini, A | 4 |
| Petricci, E | 2 |
| Atrei, A | 1 |
| Baratto, MC | 1 |
| Manetti, F | 4 |
| Santucci, A | 23 |
| Roopnarinesingh, RC | 1 |
| Donlon, NE | 1 |
| Reynolds, JV | 1 |
| Galderisi, S | 4 |
| Milella, MS | 2 |
| Rossi, M | 1 |
| Cicaloni, V | 2 |
| Rossi, R | 2 |
| Giustarini, D | 2 |
| Spiga, O | 5 |
| Tinti, L | 5 |
| Salvini, L | 2 |
| Tinti, C | 2 |
| Braconi, D | 14 |
| Millucci, L | 14 |
| Lupetti, P | 5 |
| Prischi, F | 1 |
| Bernardini, G | 13 |
| Annamalai, AK | 1 |
| Gurnell, M | 1 |
| Erraoui, K | 1 |
| Nassar, K | 1 |
| Janani, S | 1 |
| Bozaci, AE | 1 |
| Yazici, H | 1 |
| Canda, E | 1 |
| Uçar, SK | 1 |
| Guvenc, MS | 1 |
| Berdeli, A | 1 |
| Habif, S | 1 |
| Coker, M | 1 |
| Kostova, T | 1 |
| Batalov, Z | 1 |
| Karalilova, R | 1 |
| Batalov, A | 1 |
| Ranganath, LR | 21 |
| Milan, AM | 12 |
| Hughes, AT | 11 |
| Davison, AS | 11 |
| M, K | 1 |
| Norman, BP | 7 |
| Bou-Gharios, G | 3 |
| Gallagher, JA | 19 |
| Imrich, R | 5 |
| Arnoux, JB | 3 |
| Rudebeck, M | 4 |
| Olsson, B | 4 |
| Lequeue, S | 1 |
| Neuckermans, J | 1 |
| Nulmans, I | 1 |
| Schwaneberg, U | 1 |
| Vanhaecke, T | 1 |
| De Kock, J | 1 |
| Grasso, D | 1 |
| Geminiani, M | 5 |
| Iacomelli, G | 1 |
| Peruzzi, L | 1 |
| Marzocchi, B | 5 |
| Sireau, N | 7 |
| Al-Tarawneh, A | 1 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| An International, Multicentre, Randomised, Evaluator-blind, No-treatment Controlled, Parallel-group Study to Assess the Efficacy and Safety of Once Daily Nitisinone in Patients With Alkaptonuria After 12 Months of Treatment, Followed by an Additional 36 M[NCT01916382] | Phase 3 | 140 participants (Anticipated) | Interventional | 2014-04-30 | Active, not recruiting | ||
| An International, Multicentre, Randomised, Open-label, No-treatment Controlled, Parallel-group, Dose-response Study to Investigate the Effect of Once Daily Nitisinone on 24-hour Urinary Homogentisic Acid Excretion in Patients With Alkaptonuria After 4 Wee[NCT01828463] | Phase 2 | 40 participants (Actual) | Interventional | 2013-05-31 | Completed | ||
| Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria[NCT01390077] | Phase 2/Phase 3 | 8 participants (Actual) | Interventional | 2011-01-31 | Completed | ||
| Determining Individualised Gait Modification Strategies to Reduce Knee Joint Moments in Alkaptonuria Patients Using Real-time Feedback[NCT04142671] | 30 participants (Anticipated) | Interventional | 2021-10-31 | Not yet recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
Urine homogentisic acid (umol/mmol creatinine) (NCT01390077)
Timeframe: 3-6 months
| Intervention | uM (Mean) |
|---|---|
| HGA, Baseline | 1425.9 |
| HGA, 2 mg/d Nitisinone | 113.1 |
| HGA, 4 mg Nitisinone | 34.0 |
Plasma tyrosine (uM) (NCT01390077)
Timeframe: 3-6 months
| Intervention | uM (Mean) |
|---|---|
| Tyrosine, Baseline | 53.1 |
| Tyrosine, 2 mg/d Nitisinone | 668.7 |
| Tyrosine, 4 mg Nitisinone | 703.7 |
18 reviews available for homogentisic acid and Alcaptonuria
| Article | Year |
|---|---|
Ochronotic arthropathy in the context of spondyloarthritis differential diagnosis: a case-based review.
Topics: Aged; Alkaptonuria; Ascorbic Acid; Cartilage Diseases; Dioxygenases; Homogentisic Acid; Humans; Join | 2022 |
Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria-a mini-review.
Topics: Alkaptonuria; Cyclohexanones; Homogentisic Acid; Humans; Multicenter Studies as Topic; Nitrobenzoate | 2023 |
Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria.
Topics: Alkaptonuria; Dioxygenases; Genetic Association Studies; Homogentisate 1,2-Dioxygenase; Homogentisic | 2023 |
Alkaptonuria - Past, present and future.
Topics: Alkaptonuria; Animals; Homogentisic Acid; Humans; Mice; Quality of Life; Tyrosine; Tyrosinemias | 2023 |
Alkaptonuria - Many questions answered, further challenges beckon.
Topics: Alkaptonuria; Animals; Cyclohexanones; Disease Models, Animal; Enzyme Inhibitors; Homogentisic Acid; | 2020 |
A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.
Topics: Alkaptonuria; Animals; Homogentisic Acid; Humans; Ochronosis; Spondylitis, Ankylosing | 2021 |
Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review.
Topics: Alkaptonuria; Animals; Cartilage; Chondrocytes; Homogentisic Acid; Humans; Mice; Ochronosis; Oxidati | 2019 |
Alkaptonuric patient presenting with "black" disc: a case report.
Topics: Alkaptonuria; Color; Diagnosis, Differential; Female; Homogentisic Acid; Humans; Intervertebral Disc | 2013 |
Alkaptonuria-associated aortic stenosis.
Topics: Aged; Alkaptonuria; Aortic Valve; Aortic Valve Stenosis; Heart Valve Prosthesis; Heart Valve Prosthe | 2013 |
Alkaptonuria: a very rare metabolic disorder.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Melanins; Ochronosis | 2013 |
Oxidative stress and mechanisms of ochronosis in alkaptonuria.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Ochronosis; Oxidative Stress | 2015 |
Renal and prostate stones composition in alkaptonuria: a case report.
Topics: Alkaptonuria; Apatites; Calcium Oxalate; Calcium Phosphates; Calculi; Homogentisic Acid; Humans; Kid | 2015 |
Acute fatal metabolic complications in alkaptonuria.
Topics: Acute Disease; Alkaptonuria; Cyclohexanones; Erythrocytes; Homogentisate 1,2-Dioxygenase; Homogentis | 2016 |
Alkaptonuria presenting with ochronotic spondyloarthropathy.
Topics: Alkaptonuria; Antioxidants; Ascorbic Acid; Female; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; | 2008 |
Ochronosis in differential diagnosis of patients with chronic backache: a review of the literature.
Topics: Alkaptonuria; Anti-Inflammatory Agents, Non-Steroidal; Arthralgia; Ascorbic Acid; Back Pain; Calcino | 2007 |
[Alkaptonuria (homogentisic aciduria)].
Topics: Alkaptonuria; Arthritis; Diagnosis, Differential; Dioxygenases; Homogentisate 1,2-Dioxygenase; Homog | 1998 |
Alkaptonuria.
Topics: Adult; Alkaptonuria; Child; Female; History, 19th Century; History, 20th Century; Homogentisic Acid; | 1986 |
[Ochronotic arthropathy].
Topics: Alkaptonuria; Ascorbic Acid; Cartilage, Articular; Homogentisic Acid; Humans; Joint Diseases; Ochron | 1973 |
5 trials available for homogentisic acid and Alcaptonuria
| Article | Year |
|---|---|
Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial.
Topics: Alkaptonuria; Anti-Bacterial Agents; Gram-Negative Bacteria; Gram-Positive Bacteria; Homogentisic Ac | 2023 |
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.
Topics: Adult; Aged; Alkaptonuria; Cyclohexanones; Drug Administration Schedule; Enzyme Inhibitors; Female; | 2020 |
Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria.
Topics: Adult; Alkaptonuria; Cyclohexanones; Female; Homogentisic Acid; Humans; Male; Middle Aged; Nitrobenz | 2019 |
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid
Topics: Adult; Alkaptonuria; Cyclohexanones; Dose-Response Relationship, Drug; Drug Administration Schedule; | 2016 |
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adult; Alkaptonuria; Cyclohexanones; Homogentisic Acid; Humans; | 2011 |
158 other studies available for homogentisic acid and Alcaptonuria
| Article | Year |
|---|---|
Alkaptonuria in Russia.
Topics: Alkaptonuria; Exons; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Humans; Joint Diseases; Ochro | 2022 |
[Severe spine lesion following alkaptonuria. Case report].
Topics: Aged; Alkaptonuria; Homogentisic Acid; Humans; Intervertebral Disc; Ochronosis; Spinal Diseases | 2021 |
A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria.
Topics: Acetates; Adult; Aged; Alkaptonuria; Benzoquinones; Case-Control Studies; Dynamic Light Scattering; | 2021 |
Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease.
Topics: Alkaptonuria; Cartilage, Articular; Homogentisic Acid; Humans; Ochronosis; Rare Diseases | 2021 |
Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria.
Topics: Alkaptonuria; Apoptosis; Autophagy; Biomarkers; Cartilage, Articular; Cell Line; Chondrocytes; Homog | 2022 |
Black urine-alkaptonuria.
Topics: Adult; Alkaptonuria; Homogentisic Acid; Humans; Male; Urine | 2022 |
[Ochronosis: A case report].
Topics: Aged; Alkaptonuria; Homogentisic Acid; Humans; Knee Joint; Ochronosis; Radiography | 2022 |
Long-term follow-up of alkaptonuria patients: single center experience.
Topics: Adult; Alkaptonuria; Child; Female; Follow-Up Studies; Homogentisate 1,2-Dioxygenase; Homogentisic A | 2022 |
Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria.
Topics: Alkaptonuria; Brain Diseases, Metabolic, Inborn; Cyclohexanones; Homogentisic Acid; Humans; Nitroben | 2022 |
A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.
Topics: Alkaptonuria; Dioxygenases; Escherichia coli; High-Throughput Screening Assays; Homogentisate 1,2-Di | 2022 |
Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria.
Topics: Alkaptonuria; Biomarkers; Dioxygenases; Homogentisic Acid; Humans; Magnetic Resonance Spectroscopy; | 2022 |
Bacterial quality of urinary tract in patients with alkaptonuria.
Topics: Alkaptonuria; Arthritis; Female; Homogentisic Acid; Humans; Male; Urinary Tract | 2023 |
Nutritional interventions for patients with alkaptonuria: A minireview.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Ochronosis; Tyrosine; Tyrosinemias | 2023 |
Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Alkaptonuria; Homogentisic Acid; Humans; Molecular Docking Simu | 2023 |
Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii).
Topics: Alkaptonuria; Animals; Female; Homogentisic Acid; Homozygote; Humans; Mutation, Missense; Pongo abel | 2023 |
Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.
Topics: Adolescent; Alkaptonuria; Child; Dioxygenases; Egypt; Female; Homogentisate 1,2-Dioxygenase; Homogen | 2023 |
Arthroscopic ankle arthrodesis in two alkaptonuria patients.
Topics: Alkaptonuria; Ankle; Arthrodesis; Cartilage Diseases; Homogentisic Acid; Humans; Osteoarthritis | 2023 |
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
Topics: Alkaptonuria; Animals; Disease Models, Animal; Gene Knockout Techniques; Homogentisate 1,2-Dioxygena | 2019 |
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
Topics: Adult; Alkaptonuria; Case-Control Studies; Creatinine; Female; Glomerular Filtration Rate; Homogenti | 2020 |
Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway.
Topics: Alkaptonuria; beta Catenin; Bone and Bones; Cells, Cultured; Homogentisic Acid; Humans; Inflammation | 2020 |
Assessment of Thyroid Function in Patients With Alkaptonuria.
Topics: Adult; Alkaptonuria; Autoantibodies; Autoantigens; Cohort Studies; Female; Homogentisic Acid; Humans | 2020 |
Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage.
Topics: Alkaptonuria; Cartilage, Articular; Electron Spin Resonance Spectroscopy; Homogentisic Acid; Humans; | 2020 |
HPLC with electrochemical detection for determining homogentisic acid and its application to urine from rats fed tyrosine-enriched food.
Topics: Alkaptonuria; Animal Feed; Animals; Chromatography, High Pressure Liquid; Electrochemical Techniques | 2020 |
Novel absorbance peak of gentisic acid following the oxidation reaction.
Topics: Alkaptonuria; Aspirin; Chromatography, Liquid; Gentisates; Homogentisic Acid; Humans; Mass Spectrome | 2020 |
Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria.
Topics: Alkaptonuria; Cell Line; DNA-Binding Proteins; Homeostasis; Homogentisic Acid; Humans; Hydrogen Pero | 2020 |
[Alkaptonuria detected during knee arthroplasty treatment].
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Homogentisic Acid; Humans; Male; Mutation | 2020 |
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients.
Topics: Aged; Alkaptonuria; Cohort Studies; Cyclohexanones; Female; Homogentisic Acid; Humans; Joints; Linea | 2021 |
Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage.
Topics: Actins; Alkaptonuria; Cartilage, Articular; Chondrocytes; Cytoskeleton; Extracellular Matrix; Homoge | 2021 |
Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy.
Topics: Adult; Alkaptonuria; Bone Diseases, Metabolic; Cervical Vertebrae; Gait Disorders, Neurologic; Homog | 2021 |
[A male with black cartilage].
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Cartilage; Color; Homogentisic Acid; Humans; Incident | 2021 |
Homogentisic Acid-Based Whole-Cell Biosensor for Detection of Alkaptonuria Disease.
Topics: Alkaptonuria; Biosensing Techniques; Chromatography, High Pressure Liquid; Homogentisic Acid; Humans | 2021 |
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.
Topics: Adolescent; Adult; Alkaptonuria; Child; Child, Preschool; Exons; Family Health; Female; Founder Effe | 2021 |
Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Cartilage; Homogentisic Acid; Humans; Incidental Find | 2021 |
Determination of homogentisic acid in urine for diagnosis of alcaptonuria: Capillary electrophoretic method optimization using experimental design.
Topics: Alkaptonuria; Electrophoresis, Capillary; Homogentisic Acid; Humans; Limit of Detection; Linear Mode | 2018 |
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Alkaptonuria; Cyclohexanones; Disease Progression; Female; Homo | 2018 |
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria.
Topics: Alkaptonuria; Cartilage, Articular; Chondrocytes; Homogentisic Acid; Humans; Ochronosis; Oxidation-R | 2019 |
A father's fight to help his sons - and fix clinical trials.
Topics: Adolescent; Alkaptonuria; Animals; Autopsy; Child; Clinical Trials as Topic; Compassionate Use Trial | 2019 |
Endogenous ochronosis: when clinical suspicion prevails over histopathology.
Topics: Alkaptonuria; Female; Homogentisic Acid; Humans; Hyperpigmentation; Joint Diseases; Middle Aged; Och | 2019 |
Glaucoma With Alkaptonuria as a Result of Pigment Accumulation.
Topics: Aged; Alkaptonuria; Conjunctival Diseases; Glaucoma, Open-Angle; Gonioscopy; Homogentisic Acid; Huma | 2019 |
Alkaptonuria - more than meets the eye.
Topics: Alkaptonuria; Homogentisic Acid; Humans | 2013 |
Interferences of homogentisic acid (HGA) on routine clinical chemistry assays in serum and urine and the implications for biochemical monitoring of patients with alkaptonuria.
Topics: Alkaptonuria; Benzethonium; Biological Assay; Creatinine; Homogentisic Acid; Humans | 2014 |
Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria.
Topics: Adult; Alkaptonuria; Case-Control Studies; Female; Healthy Volunteers; Homogentisic Acid; Humans; Hy | 2014 |
Clinical and in vivo confocal microscopic findings of a patient with ocular ochronosis.
Topics: Adult; Alkaptonuria; Conjunctival Diseases; Corneal Diseases; Corneal Pachymetry; Descemet Membrane; | 2014 |
Urine homogentisic acid and tyrosine: simultaneous analysis by liquid chromatography tandem mass spectrometry.
Topics: Alkaptonuria; Chromatography, Liquid; Homogentisic Acid; Humans; Limit of Detection; Tandem Mass Spe | 2014 |
A rare case of acquired methemoglobinemia associated with alkaptonuria.
Topics: Aged; Alkaptonuria; Fatal Outcome; Female; Homogentisic Acid; Humans; Kidney Failure, Chronic; Methe | 2014 |
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.
Topics: Alkaptonuria; Biomarkers; Chromatography, Liquid; Cyclohexanones; Homogentisic Acid; Humans; Nitrobe | 2015 |
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.
Topics: Alkaptonuria; Animals; Blood-Brain Barrier; Blotting, Western; Brain; Cell Line, Tumor; Homogentisat | 2015 |
A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria.
Topics: Alkaptonuria; Cell Line; Chondrocytes; Homogentisic Acid; Humans; Interleukin-10; Interleukin-6; Och | 2016 |
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Alkaptonuria; Animals; Cell Survival; Cyclohexanones; Dose-Resp | 2016 |
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria?
Topics: Alkaptonuria; Animals; Catechol Oxidase; Collagen; Genes, Recessive; Homogentisic Acid; Humans; Mela | 2016 |
Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis.
Topics: Aged; Alkaptonuria; Aortic Valve Stenosis; Arthroplasty, Replacement, Hip; Chondrocalcinosis; Diseas | 2016 |
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Chronic Pain; Homogentisic Acid; Humans; Knee Joint; | 2016 |
Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins.
Topics: Alkaptonuria; alpha-Synuclein; Amyloid beta-Peptides; Amyloidogenic Proteins; Amyloidosis; Atrial Na | 2017 |
Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signaling and primary cilium length in alkaptonuria.
Topics: Alkaptonuria; Anilides; Cells, Cultured; Chondrocytes; Cilia; Dose-Response Relationship, Drug; Hedg | 2017 |
The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool.
Topics: Adult; Aged; Alkaptonuria; Chromatography, Liquid; Cyclohexanones; Drug Administration Schedule; Enz | 2017 |
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.
Topics: Actin Cytoskeleton; ADP-Ribosylation Factors; Alkaptonuria; Cartilage, Articular; Case-Control Studi | 2017 |
A new light on Alkaptonuria: A Fourier-transform infrared microscopy (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopy correlative study on a rare disease.
Topics: Alkaptonuria; Amyloidosis; Cartilage; Fluorescence; Homogentisic Acid; Humans; Lipids; Magnesium; Mi | 2017 |
Alkaptonuria and intramedullary calcification.
Topics: Alkaptonuria; Calcinosis; Disease Progression; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Hum | 2008 |
R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.
Topics: Alkaptonuria; Base Sequence; Family; Female; Frameshift Mutation; Genotype; Homogentisate 1,2-Dioxyg | 2009 |
Three-generational alkaptonuria in a non-consanguineous family.
Topics: Adult; Aged; Alkaptonuria; Biomarkers; DNA Mutational Analysis; Female; Gene Frequency; Genetic Pred | 2008 |
A metabolic cause of spinal deformity.
Topics: Adult; Alkaptonuria; Chronic Disease; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Humans; Low | 2010 |
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Topics: Alkaptonuria; Cohort Studies; Exons; Genotype; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Hum | 2009 |
Homogentisic acid interference in routine urine creatinine determination.
Topics: Alkaptonuria; Artifacts; Creatinine; Homogentisic Acid; Humans | 2010 |
Studies on alcaptonuria; the estimation of homogentisic acid.
Topics: Alkaptonuria; Homogentisic Acid; Humans | 1947 |
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis.
Topics: Acetylcysteine; Alkaptonuria; Antioxidants; Ascorbic Acid; Cells, Cultured; Coumaric Acids; Homogent | 2010 |
Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.
Topics: Acetylcysteine; Alkaptonuria; Antioxidants; Apoptosis; Ascorbic Acid; Cartilage, Articular; Cell Pro | 2010 |
Ashy ears.
Topics: Alkaptonuria; Ear; Genetic Predisposition to Disease; Homogentisate 1,2-Dioxygenase; Homogentisic Ac | 2010 |
Chronic low backache and stiffness may not be due ankylosing spondylitis.
Topics: Adult; Alkaptonuria; Anti-Inflammatory Agents, Non-Steroidal; Ascorbic Acid; Homogentisic Acid; Huma | 2010 |
Development of an in vitro model to investigate joint ochronosis in alkaptonuria.
Topics: Alkaptonuria; Cells, Cultured; Homogentisic Acid; Humans; Joint Diseases; Models, Biological; Ochron | 2011 |
Alkaptonuria.
Topics: Aged; Alkaptonuria; Arthritis; Cyclohexanones; Female; Homogentisic Acid; Humans; Joint Diseases; Ni | 2010 |
Black aorta in a patient with alkaptonuria (ochronosis).
Topics: Alkaptonuria; Aortic Valve Stenosis; Female; Heart Valve Prosthesis Implantation; Homogentisic Acid; | 2011 |
An update on molecular genetics of Alkaptonuria (AKU).
Topics: Alkaptonuria; Chromosome Mapping; Chromosomes, Human, Pair 3; DNA Mutational Analysis; Dominican Rep | 2011 |
A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems.
Topics: Adolescent; Adult; Age Distribution; Aged; Aged, 80 and over; Alkaptonuria; Causality; Cohort Studie | 2011 |
Natural history of alkaptonuria revisited: analyses based on scoring systems.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Adult; Aged; Aged, 80 and over; Alkaptonuria; Arthr | 2011 |
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.
Topics: Alkaptonuria; Benzoquinones; Glutathione Peroxidase; Glutathione Reductase; Homogentisic Acid; Human | 2011 |
Clinical images: Magnetic resonance imaging appearance of alkaptonuria.
Topics: Alkaptonuria; Diagnosis, Differential; Gas Chromatography-Mass Spectrometry; Homogentisic Acid; Huma | 2012 |
Aortic stenosis and vascular calcifications in alkaptonuria.
Topics: Adult; Aged; Aged, 80 and over; Alkaptonuria; Aortic Valve Stenosis; Cardiovascular System; Echocard | 2012 |
The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria.
Topics: Alkaptonuria; Bone and Bones; Calcinosis; Cartilage, Articular; Disease Progression; Extracellular M | 2011 |
Alkaptonuria is a novel human secondary amyloidogenic disease.
Topics: Aged; Alkaptonuria; Amyloidosis; Cartilage; Chondrocytes; Female; Homogentisate 1,2-Dioxygenase; Hom | 2012 |
An unusual cause of chronic backache.
Topics: Alkaptonuria; Calcification, Physiologic; Homogentisic Acid; Humans; Low Back Pain; Lumbar Vertebrae | 2015 |
Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria.
Topics: Aged; Alkaptonuria; Aortic Valve Stenosis; Heart Valve Prosthesis; Homogentisic Acid; Humans; Male; | 2013 |
[Ochronosis: a case report with multisystemic affectation, including pericardium].
Topics: Aged; Aged, 80 and over; Alkaptonuria; Calcinosis; Dioxygenases; Female; Heart Diseases; Homogentisa | 2002 |
Alkaptonuria.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Alkaptonuria; Antioxidants; Ascorbic Acid; Benzoquinones; Cyclo | 2003 |
Urinary homogentisic acid in alkaptonuric and healthy children.
Topics: Adolescent; Age Distribution; Alkaptonuria; Antioxidants; Ascorbic Acid; Case-Control Studies; Child | 2003 |
Alkaptonuria caused by compound heterozygote mutations.
Topics: Adult; Alkaptonuria; Biopsy; Exons; Face; Heterozygote; Homogentisic Acid; Humans; Male; Ochronosis; | 2003 |
Detection and rough estimation of homogentisic acid in urine.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Regression Analysis | 1957 |
Studies of alcaptonuria: absorption spectra of homogentisic acid-chondroitin sulfate solutions.
Topics: Alkaptonuria; Chondroitin Sulfates; Homogentisic Acid; Phenylacetates | 1958 |
Studies of alcaptonuria: adsorption of homogentisic acid solutions on collagen chromatographic columns.
Topics: Adsorption; Alkaptonuria; Collagen; Homogentisic Acid; Phenylacetates | 1961 |
Studies of alcaptonuria: binding of homogentisic acid solutions to hide powder collagen.
Topics: Alkaptonuria; Biophysical Phenomena; Collagen; Gentisates; Homogentisic Acid; Powders | 1961 |
Studies of alcaptonuria: mechanisms of swelling of homogentisic acid-collagen preparations.
Topics: Alkaptonuria; Collagen; Edema; Homogentisic Acid; Humans; Phenylacetates | 1961 |
The bound form of homogentisic acid in alkaptonuric urine.
Topics: Alkaptonuria; Body Fluids; Chromatography; Glycine; Homogentisic Acid; Humans; Phenylacetates | 1962 |
[SOME DATA ON THE CLINICAL PICTURE OF ALKAPTONURIA. MODIFIED METHOD FOR THE DETERMINATION OF ALKAPTONURIA AND HOMOGENTISIC ACID].
Topics: Alkaptonuria; Child; Chromatography; Genetics, Medical; Homogentisic Acid; Humans; Phenylacetates; P | 1964 |
Studies of alcaptonuria: kinetics of homogentisic acid autoxidation.
Topics: Alkaptonuria; Gentisates; Homogentisic Acid; Kinetics | 1960 |
Pigmented conjunctival lesions as initial manifestation of ochronosis.
Topics: Alkaptonuria; Conjunctival Diseases; Homogentisic Acid; Humans; Male; Middle Aged; Ochronosis; Pigme | 2004 |
Alkaptonuria and photography: a patient's urine tells the story.
Topics: Alkaptonuria; History, 20th Century; Homogentisic Acid; Humans; Hydroquinones; Male; Molecular Struc | 2005 |
Use of nitisinone in patients with alkaptonuria.
Topics: Adult; Aged; Alkaptonuria; Cyclohexanones; Dietary Proteins; Female; Homogentisic Acid; Humans; Male | 2005 |
Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis.
Topics: Alkaptonuria; Female; Follow-Up Studies; Hepatitis C; Homogentisic Acid; Humans; Liver Cirrhosis; Li | 2005 |
STUDIES ON HUMAN ALCAPTONURIA. EFFECT OF THIOURACIL, PARA-AMINOBENZOIC ACID AND DI-IODOTYROSINE ON EXCRETION OF HOMOGENTISIC ACID.
Topics: 4-Aminobenzoic Acid; Alkaptonuria; Biological Transport; Body Fluids; Homogentisic Acid; Humans; Mon | 1949 |
Ochronosis and lumbar disc herniation.
Topics: Alkaptonuria; Coloring Agents; Connective Tissue Diseases; Diskectomy; Homogentisate 1,2-Dioxygenase | 2006 |
[Anesthesia in a patient with alkaptonuric ochronosis for total hip arthroplasty].
Topics: Aged; Alkaptonuria; Anesthesia, Epidural; Anesthesia, General; Anesthesia, Spinal; Arthroplasty, Rep | 2008 |
Pink napkins--presenting feature in a case of alkaptonuria.
Topics: Alkaptonuria; Ascorbic Acid; Homogentisic Acid; Humans; Hydrogen-Ion Concentration; Infant; Male; Pi | 1984 |
Alcaptonuria detected in the sixth decade of life.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Male; Middle Aged; Ochronosis | 1984 |
[Alkaptonuria. A brief outline of present-day knowledge of the biochemical aspects of the metabolic defect and pathogenesis of the disease (author's transl)].
Topics: Alkaptonuria; Animals; Chick Embryo; Guinea Pigs; Homogentisic Acid; Humans; Pigments, Biological | 1982 |
[Diagnosis of alkaptonuria].
Topics: Alkaptonuria; Homogentisic Acid; Humans; Methods | 1980 |
[Alkaptonuria in a newborn infant].
Topics: Alkaptonuria; Female; Homogentisic Acid; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1980 |
[Thin-layer chromatographic analysis of urinary homogentisic acid].
Topics: Alkaptonuria; Chromatography, Thin Layer; Homogentisic Acid; Humans | 1980 |
Alcaptonuria: a case complicated with valvular heart disease and immunodeficiency.
Topics: Aged; Alkaptonuria; Gas Chromatography-Mass Spectrometry; Heart Valve Diseases; Homogentisic Acid; H | 1994 |
[Alkaptonuria and ochronotic arthropathy. Arthroscopic and intraoperative findings in implantation of a knee joint surface replacing prosthesis].
Topics: Alkaptonuria; Arthritis; Female; Homogentisic Acid; Humans; Knee Prosthesis; Middle Aged; Ochronosis | 1994 |
Monitoring of a one-month ascorbic acid therapy in an alcaptonuric child; determinations by HPLC.
Topics: Alkaptonuria; Ascorbic Acid; Child, Preschool; Chromatography, High Pressure Liquid; Creatinine; Fem | 1994 |
Homogentisic acid oxidase activity in homozygous and heterozygous alkaptonuric mice.
Topics: Alkaptonuria; Animals; Dioxygenases; Heterozygote; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; | 1994 |
aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16.
Topics: Alkaptonuria; Animals; Base Sequence; Chromosome Mapping; Crosses, Genetic; Dioxygenases; Disease Mo | 1994 |
Alcaptonuria in a Brazilian baby.
Topics: Alkaptonuria; Chromatography, High Pressure Liquid; Female; Homogentisic Acid; Humans; Infant | 1993 |
Alkaptonuria: such a long journey.
Topics: Alkaptonuria; Dioxygenases; History, 19th Century; History, 20th Century; Homogentisate 1,2-Dioxygen | 1996 |
Quantitation of homogentisic acid in normal human plasma.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Gas Chromatography-Mass Spectrometry; Heterozygo | 1996 |
Homogentisic acid interference in the measurement of urinary protein using benzethonium chloride.
Topics: Adult; Alkaptonuria; Benzethonium; Homogentisic Acid; Humans; Male; Proteinuria | 1996 |
Spectrophotometric determination of homogentisate using Aspergillus nidulans homogentisate dioxygenase.
Topics: Alkaptonuria; Aspergillus nidulans; Chromatography, High Pressure Liquid; Dioxygenases; Female; Homo | 1997 |
Capillary electrophoresis for diagnosis of metabolic disease.
Topics: Alkaptonuria; Electrophoresis, Capillary; Galactosemias; Homogentisic Acid; Homovanillic Acid; Human | 1997 |
The success of dietary protein restriction in alkaptonuria patients is age-dependent.
Topics: Adolescent; Adult; Aging; Alkaptonuria; Behavior; Child; Child, Preschool; Diet, Protein-Restricted; | 1998 |
A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Alkaptonuria; Animals; Cyclohexanones; Disease Models, Animal; | 1999 |
Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome.
Topics: Alkaptonuria; Aortic Valve Stenosis; Coronary Disease; Homogentisic Acid; Humans; Male; Middle Aged; | 1998 |
'Pseudohypouricosuria' in alcaptonuria: homogentisic acid interference in the measurement of urinary uric acid with the uricase-peroxidase reaction.
Topics: Alkaptonuria; Female; Homogentisic Acid; Humans; Middle Aged; Peroxidase; Urate Oxidase; Uric Acid | 1999 |
[A child with dark discoloration of urine].
Topics: Alkaptonuria; Antioxidants; Ascorbic Acid; Child, Preschool; Diagnosis, Differential; Diet, Protein- | 1999 |
[Alkaptonuria: a rare cause of urine discoloration. Report of a case in a newborn].
Topics: Alkaptonuria; Diagnosis, Differential; Homogentisic Acid; Humans; Infant; Male; Prognosis; Urinalysi | 2000 |
Bluish patches on the ears and axillae with dark urine: ochronosis and alkaptonuria.
Topics: Alkaptonuria; Female; Homogentisic Acid; Humans; Lumbosacral Region; Middle Aged; Ochronosis; Radiog | 2001 |
Characterization of mummy bone ochronotic pigment.
Topics: Aged; Alkaptonuria; Bone and Bones; Egypt, Ancient; History, Ancient; Homogentisic Acid; Humans; Mal | 1978 |
Tyrosine metabolism in cirrhosis: acquired alkaptonuria.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Liver Cirrhosis; Liver Function Tests; Phenylpyruvic Acids; | 1978 |
In vitro inhibition of chick embryo lysyl hydroxylase by homogentisic acid. A proposed connective tissue defect in alkaptonuria.
Topics: Alkaptonuria; Animals; Ascorbic Acid; Chick Embryo; Collagen; Connective Tissue; Dithiothreitol; Hom | 1977 |
Alkaptonuria with extensive ochronosis.
Topics: Alkaptonuria; Female; Homogentisic Acid; Humans; Kidney Diseases; Middle Aged; Ochronosis | 1979 |
Diagnosis of alkaptonuria in children.
Topics: Adolescent; Alkaptonuria; Child; Child, Preschool; Female; Homogentisic Acid; Humans; Infant; Infant | 1979 |
Alkaptonuria.
Topics: Adolescent; Adult; Aged; Alkaptonuria; Child; Child, Preschool; Czechoslovakia; Female; Homogentisic | 1979 |
[Alkaptonuria].
Topics: Aged; Alkaptonuria; Female; Homogentisic Acid; Humans; Hypertension; Male; Middle Aged; Spinal Osteo | 1977 |
[Biochemical diagnosis and some biochemical parameters in patients with alcaptonuria (author's transl)].
Topics: Adolescent; Adult; Alkaptonuria; Amino Acids; Child; Child, Preschool; Female; Glycosuria; Homogenti | 1978 |
Ochronotic arthropathy. I. Clinicopathologic studies.
Topics: Adult; Alkaptonuria; Arthritis; Cartilage, Articular; Female; Homogentisic Acid; Humans; Male; Middl | 1977 |
A simple urine screening test for alkaptonuria.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Reagent Kits, Diagnostic | 1977 |
Intermittent alcaptonuria.
Topics: Alkaptonuria; Child; Homogentisic Acid; Humans; Male; Oxygenases; Phenylalanine; Tyrosine | 1975 |
Ascorbic acid and alkaptonuria.
Topics: Alkaptonuria; Animals; Ascorbic Acid; Dioxygenases; Homogentisate 1,2-Dioxygenase; Homogentisic Acid | 1992 |
Characterization of the pigment from homogentisic acid and urine and tissue from an alkaptonuria patient.
Topics: Alkaptonuria; Catalase; Electron Spin Resonance Spectroscopy; Homogentisic Acid; Humans; Melanins; N | 1991 |
Diagnosis of alcaptonuria: rapid analysis of homogentisic acid by HPLC.
Topics: Adult; Aged; Alkaptonuria; Chromatography, High Pressure Liquid; Female; Homogentisic Acid; Humans; | 1990 |
Analysis for homogentisic acid by NMR spectrometry, to aid diagnosis of alkaptonuria.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Magnetic Resonance Spectroscopy | 1989 |
Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy.
Topics: Aged; Alkaptonuria; Ascorbic Acid; Benzoquinones; Homogentisic Acid; Humans; Infant; Male; Middle Ag | 1989 |
Homogentisic acid determined in biological fluids by HPLC.
Topics: Adult; Alkaptonuria; Chromatography, High Pressure Liquid; Homogentisic Acid; Humans; Male; Middle A | 1989 |
Homogentisic acid autoxidation and oxygen radical generation: implications for the etiology of alkaptonuric arthritis.
Topics: Alkaptonuria; Animals; Arthritis; Ascorbic Acid; Edetic Acid; Free Radicals; Homogentisic Acid; Hyal | 1987 |
Interference in urine oxalate assay (sigma diagnostics oxalate oxidase method) from homogentisic acid in alkaptonuria.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Oxalates; Oxalic Acid | 1986 |
Artifacts produced by homogentisic acid in the examination of urine from alkaptonurics.
Topics: Alkaptonuria; Diagnostic Errors; Homogentisic Acid; Humans | 1986 |
Diagnosis of alkaptonuria by NMR urinalysis: rapid qualitative and quantitative analysis of homogentisic acid.
Topics: Alkaptonuria; Child; Homogentisic Acid; Humans; Magnetic Resonance Spectroscopy | 1986 |
[Alkaptonuria. Presentation of a case in a 2-year-old child].
Topics: Alkaptonuria; Amino Acids; Arthritis; Cerumen; Diabetes Mellitus; Diagnosis, Differential; Homogenti | 1986 |
A histological, histochemical and ultrastructural study of dermal ochronosis.
Topics: Adenosine Triphosphatases; Alkaline Phosphatase; Alkaptonuria; Biopsy; Collagen; Female; Homogentisi | 1971 |
[Alkaptonuria in childhood--our hitherto experiences].
Topics: Adolescent; Alkaptonuria; Child; Child, Preschool; Czechoslovakia; Homogentisic Acid; Humans; Infant | 1974 |
Analysis of alkaptonuria incidence in one region of Northwest Slovakia: a preliminary report.
Topics: Alkaptonuria; Consanguinity; Czechoslovakia; Homogentisic Acid; Humans; Mutation; Pedigree; Poland; | 1974 |
Alkaptonuria in an orangutan (Pongo pygmaeus).
Topics: Alkaptonuria; Animals; Chromatography, Paper; Disease Models, Animal; Hominidae; Homogentisic Acid | 1973 |
Urinary homogentisic acid: determination by thin-layer chromatography.
Topics: Alkaptonuria; Ascorbic Acid; Chromatography, Thin Layer; Dihydroxyphenylalanine; Drug Stability; Gen | 1973 |
Problems in the laboratory diagnosis of alcaptonuria.
Topics: Alkaptonuria; Arthritis, Rheumatoid; Aspirin; Cerumen; Child, Preschool; Chromatography, Paper; Colo | 1973 |
Alcaptonuria (Ochronosis).
Topics: Alkaptonuria; Homogentisic Acid; Humans; Joint Diseases; Oxygenases; Spinal Diseases | 1973 |
Failure to detect glucose with paper strips in alkaptonuric urine.
Topics: Adult; Alkaptonuria; Blood Glucose; Diabetes Mellitus, Type 1; False Negative Reactions; Female; Glu | 1973 |
[Alkaptonuria].
Topics: Alkaptonuria; Child, Preschool; Homogentisic Acid; Humans; Male | 1973 |
[Biochemical study of a case of alkaptonuria].
Topics: Alkaptonuria; Colorimetry; Homogentisic Acid; Humans; Hydrogen-Ion Concentration; Indicators and Rea | 1972 |
The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography.
Topics: Acetates; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Chemistry, Clinical; Chromatography, G | 1972 |
[Alkaptonuria and ochronosis].
Topics: Alkaptonuria; Chemical Phenomena; Chemistry; Diagnosis, Differential; Female; Germany, West; Homogen | 1972 |