Page last updated: 2024-10-18

homogentisic acid and Ochronosis

homogentisic acid has been researched along with Ochronosis in 92 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.

Ochronosis: The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES).

Research Excerpts

ExcerptRelevanceReference
"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."8.12Homogentisic 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)
" Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis."7.96Homogentisic 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."7.91Homogentisic 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)
"Nitisinone decreases homogentisic acid (HGA), but has not been shown to modify progression of Alkaptonuria (AKU)."7.88Nitisinone 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)
" 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)."7.77Redox-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)
"Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity."6.61Ochronotic 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)
"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)."5.12A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature. ( Bracken, SJ; Chu, P; Cuellar, MC; Tarrant, TK, 2021)
"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)."4.89Alkaptonuria: a very rare metabolic disorder. ( Aquaron, R, 2013)
"Alkaptonuria is a rare autosomal recessive metabolic disease that leads to the deposition of homogentisic acid."4.84Alkaptonuria 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."4.84Ochronosis in differential diagnosis of patients with chronic backache: a review of the literature. ( Capkin, E; Karkucak, M; Serdaroğlu, M; Tosun, M; Yayli, S, 2007)
"Ochronosis is a rare disease caused by an inherited lack of homogentisic acid oxidase."4.79The clinical manifestations of ochronosis: a review. ( De Clerck, LS; Francx, LM; Stevens, WJ; Van Offel, JF, 1995)
" 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."4.31Nutritional 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)."4.31Identification 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)
"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."4.12Homogentisic 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 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."4.12Alkaptonuria in Russia. ( Kuzin, A; Samarkina, E; Soltysova, A; Zatkova, 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."4.02A 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."4.02Homogentisic 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)
" Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis."3.96Homogentisic 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."3.96Homogentisic 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 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."3.91Homogentisic 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."3.91Endogenous 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)
"Nitisinone decreases homogentisic acid (HGA), but has not been shown to modify progression of Alkaptonuria (AKU)."3.88Nitisinone 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."3.85Homogentisic 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 is a rare autosomal recessive condition resulting from inability to breakdown homogentisic acid (HGA), an intermediate in tyrosine degradation."3.83A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. ( Bukhari, M; Jackson, DJ; Mistry, JB; Taylor, AM, 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."3.83Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy. ( Karaaslan, F; Karaoğlu, S; Mermerkaya, MU, 2016)
"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."3.81Homogentisate 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)
"Alkaptonuria is a rare inherited disorder of tyrosine metabolism, which results in deposition of homogentisic acid in the connective tissues."3.79Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria. ( Cullen, H; Markman, P; Thakur, S, 2013)
"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."3.77A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems. ( Cox, TF; Ranganath, L, 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."3.77An update on molecular genetics of Alkaptonuria (AKU). ( Zatkova, A, 2011)
" Alkaptonuria can result in accumulation of homogentisic acid."3.77Black aorta in a patient with alkaptonuria (ochronosis). ( Casali, G; Concistrè, G; Fiorani, B; Loforte, A; Musumeci, F; Ranocchi, F, 2011)
"Alkaptonuria (AKU) is a genetic disorder caused by lack of the enzyme responsible for breaking down homogentisic acid (HGA), an intermediate in tyrosine metabolism."3.77Development 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)
"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."3.77Natural 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)."3.77Redox-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."3.77The 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)
" 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)."3.76Evaluation 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)
" Homogentisic acid was present in the patient's urine sample, suggesting him to be suffering from Alkaptonuria."3.76Chronic 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."3.76Alkaptonuria. ( Anolik, R; Pomeranz, MK; Yancovitz, M, 2010)
"All affected individuals presented with typical features of AKU including darkening of the urine, ochronosis, arthropathy, and elevated urinary excretion of homogentisic acid."3.74Three-generational alkaptonuria in a non-consanguineous family. ( Engel, K; Haas, D; Lee-Kirsch, MA; Oexle, K; Tinschert, S, 2008)
"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."3.74Alkaptonuria and intramedullary calcification. ( Dhiman, DS; Gupta, D; Kaushal, SS; Mahesh, DM; Negi, A; Raina, S; Sharma, S, 2008)
"The deficiency of homogentisic acid oxidase, an enzyme that is mainly found in hepatocytes, is associated with alkaptonuria and ochronosis."3.73Ochronotic 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."3.73Ochronosis and lumbar disc herniation. ( Daneyemez, M; Gürkanlar, D; Solmaz, I; Temiz, C, 2006)
" Observation of blue-gray pigmentation around his nose and ears suggested a diagnosis of ochronosis, which was confirmed by the detection of high levels of homogentisic acid in the urine and dark urine color following alkalization."3.72[Ankylosis of the spine in a case with ochronosis]. ( Bezer, M; Güven, O; Kocaoğlu, B, 2003)
"Ochronosis is a musculoskeletal manifestation of alkaptonuria, a rare hereditary metabolic disorder characterised by the absence of the enzyme homogentisic acid oxidase and associated with various systemic abnormalities related to the deposition of homogentisic acid pigment (ochronotic pigment)."3.70Bilateral hip arthroplasty for ochronotic arthropathy. ( Aynaci, O; Onder, C; Turhan, AU, 2000)
"A 75-year-old man was diagnosed with alcaptonuria by direct identification of homogentisic acid in the urine using gas chromatography-mass spectrometry."3.69Alcaptonuria: 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 disease often forgotten because of its rarity."2.82Ochronotic 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."2.61Ochronotic 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."2.49Alkaptonuric 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 a rare autosomal recessive disorder of inborn errors of metabolism."1.32Alkaptonuria 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 (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)
"Homogentisic acid was detectable in the urine by thin layer chromatography, and asymptomatic spondylosis with intervertebral disc calcification was found."1.27Knee arthropathy in ochronosis: diagnosis by arthroscopy with ultrastructural features. ( Lurie, DP; Musil, G, 1984)
"Alkaptonuria is found relatively frequently in Slovakia, Eastern Czechoslovakia (1 in 25,000 inhabitants)."1.26Alkaptonuria. ( Srsen, S, 1979)

Research

Studies (92)

TimeframeStudies, this research(%)All Research%
pre-199020 (21.74)18.7374
1990's5 (5.43)18.2507
2000's19 (20.65)29.6817
2010's29 (31.52)24.3611
2020's19 (20.65)2.80

Authors

AuthorsStudies
Soltysova, A1
Kuzin, A1
Samarkina, E1
Zatkova, A4
Gorozhanin, AV1
Kuzin, AV1
Bludov, AB1
Radenska-Lopovok, SG1
Smirnov, AV1
Kuzin, DA1
Krylov, AS1
Bernini, A2
Petricci, E1
Atrei, A1
Baratto, MC1
Manetti, F2
Santucci, A13
Roopnarinesingh, RC1
Donlon, NE1
Reynolds, JV1
Galderisi, S3
Milella, MS2
Rossi, M1
Cicaloni, V2
Rossi, R2
Giustarini, D2
Spiga, O4
Tinti, L4
Salvini, L2
Tinti, C2
Braconi, D9
Millucci, L10
Lupetti, P4
Prischi, F1
Bernardini, G9
Erraoui, K1
Nassar, K1
Janani, S1
Kostova, T1
Batalov, Z1
Karalilova, R1
Batalov, A1
de Azevedo Magalhaes, O1
Abdel Rahman Abu Hwas, D1
Imrich, R2
Lukacova, O1
Sedlakova, J1
Zanova, E1
Vlcek, M1
Penesova, A1
Radikova, Z1
Havranova, A1
Ranganath, L2
Zaib, S1
Rana, N1
Hussain, N1
Ogaly, HA1
Dera, AA1
Khan, I1
Ranganath, LR7
Milan, AM2
Hughes, AT2
Khedr, M3
Davison, AS2
Shweihdi, E1
Norman, BP2
Hughes, JH1
Bygott, H1
Luangrath, E1
Fitzgerald, R1
Psarelli, EE2
van Kan, C1
Laan, D1
Olsson, B1
Rudebeck, M1
Mankowitz, L1
Sireau, N2
Arnoux, JB1
Le Quan Sang, KH1
Jarvis, JC4
Genovese, F1
Glasova, H1
Stančík, R1
Rhodes, NP1
Gallagher, JA7
Schiavone, ML1
Marzocchi, B3
Vinjamuri, S2
Geminiani, M2
Vieira, OV1
Alves, LS1
Crevenna, AH1
Pinto, WBVR1
Farias, IB1
Badia, BML1
Vieira de Albuquerque Filho, JM1
Machado, RIL1
de Souza, PVS1
Oliveira, ASB1
Visser, D1
Verhaar, JAN1
Chu, P1
Cuellar, MC1
Bracken, SJ1
Tarrant, TK1
Khalil, R1
Ali, D1
Mwafi, N1
Alsaraireh, A1
Obeidat, L1
Albsoul, E1
Al Sbou', I1
Kumps, C1
Stanovici, J1
Chaibi, E1
Campos-Xavier, B1
Pavlidou, DC1
Tran, C1
Usher, JL1
Taylor, S1
Loftus, N1
Daroszewska, A1
West, E1
Jones, A1
Briggs, M1
Fisher, M1
McCormick, M1
Judd, S1
Griffin, R1
Cox, TF3
Dillon, JP1
Devine, JM1
Hughes, G1
Harrold, J1
Barton, GJ1
Leone, G1
Consumi, M1
Viti, C1
Giorgetti, G1
Magnani, A1
Sánchez-Martínez, EM1
García-Briz, MI1
Moneva-Léniz, LM1
Gegúndez-Hernández, H1
Pose-Lapausa, P1
Mateu-Puchades, A1
Okutucu, M1
Aslan, MG1
Findik, H1
Yavuz, G1
Kahveci, R1
Ergüngör, MF1
Günaydin, A1
Temiz, A1
Kocabeyoglu, S1
Sevim, D1
Mocan, MC1
Irkec, M1
Aquaron, R1
Laschi, M3
Vannuccini, E1
Rizzo, S1
Basso, C1
Bottio, T1
Mistry, JB1
Jackson, DJ1
Bukhari, M1
Taylor, AM4
Kammath, V1
Bleakley, A1
Karaoğlu, S1
Karaaslan, F1
Mermerkaya, MU1
Niccolai, N1
Córdova, ME1
Pérez-Rojas, DO1
López-Marquet, AD1
Arenas, R1
Ramesh, V1
Avninder, S1
Ben Rayana, N1
Chahed, N1
Khochtali, S1
Ghorbel, M1
Hamdi, R1
Rouis, M1
Bouajina, I1
Hamida, FB1
Raina, S1
Mahesh, DM1
Kaushal, SS1
Gupta, D1
Dhiman, DS1
Negi, A1
Sharma, S1
Al-Mahfoudh, R1
Clark, S1
Buxton, N1
Oexle, K1
Engel, K1
Tinschert, S1
Haas, D1
Lee-Kirsch, MA1
Amato, L1
Marcolongo, R2
Cavallo, G2
Spreafico, A3
Chellini, F1
Selvi, E1
Galeazzi, M1
Ahmed, S1
Shah, Z1
Ali, N1
Wlodarski, B1
Wilson, PJ2
Fraser, WD1
Davidson, JS2
Yancovitz, M1
Anolik, R1
Pomeranz, MK1
Concistrè, G1
Fiorani, B1
Ranocchi, F1
Casali, G1
Loforte, A1
Musumeci, F1
Bianchini, C1
Hamdulay, SS1
Finegold, J1
Boyer, L1
Khanna, M1
Akmal, M1
Walker, A1
Kinderlerer, A1
Boyde, A1
Hunt, JA1
Thakur, S1
Markman, P1
Cullen, H1
Cobos Soler, FJ1
Molero Cabrilla, R1
Elçioğlu, NH1
Aytuğ, AF1
Müller, CR1
Gürbüz, O1
Ergun, T1
Kotiloğlu, E1
Elçioğlu, M1
MILCH, RA1
TITUS, ED1
LOO, TL1
LA DU, BN1
O'BRIEN, WM1
ZANNONI, VG1
MORAN, TJ1
YUNIS, EJ1
Thacker, M1
Garude, S1
Puri, A1
Bezer, M1
Kocaoğlu, B1
Güven, O1
Chévez Barrios, P1
Font, RL1
Isaac, J1
Rao, A1
Kerimoglu, S1
Onder, C2
Aynaci, O2
Malkoc, CH1
Kobak, AC1
Oder, G1
Kobak, S1
Argin, M1
Inal, V1
Gürkanlar, D1
Daneyemez, M1
Solmaz, I1
Temiz, C1
Sharma, A1
Sharma, SK1
Wanchu, A1
Kumar, M1
Singh, S1
Bambery, P1
Capkin, E1
Karkucak, M1
Yayli, S1
Serdaroğlu, M1
Tosun, M1
Milakov, J1
Kikindjanin, V1
Poljacki, M1
Lurie, DP1
Musil, G1
Mori, S1
Kawaguchi, T1
Kakinuma, H1
Fuji-i, H1
Koga, S1
Suzushima, H1
Tsuji, N1
Nakakuma, H1
Takatsuki, K1
Ramsperger, R1
Lubinus, P1
Lubinus, HH1
Van Offel, JF1
De Clerck, LS1
Francx, LM1
Stevens, WJ1
Takita, H1
Turhan, AU1
ter Borg, EJ1
Turiansky, GW1
Levin, SW1
Stenn, FF2
Milgram, JW1
Lee, SL2
Weigand, RJ1
Veis, A1
Pugge, HR1
Orozco, M1
Toledo, A1
Ripoll, J1
Katz, J1
Toledo, I1
Pellanda, R1
Wyre, HW1
Srsen, S1
Schumacher, HR1
Holdsworth, DE1
Bodganikowa, B1
Bernacka, K1
Poniecki, A1
Kamoun, P1
Coude, M1
Forest, M1
Montagutelli, X1
Guenet, JL1
Penneys, NS1
Attwood, HD1
Clifton, S1
Mitchell, RE1
Friis, J1
Kutty, MK1
Iqbal, QM1
Teh, EC1
Lumpur, K1
Duliapin, VA1
Chepoĭ, VM1
Zimmermann, KG1
Adolphsen, P1
Lenz, H1
Siegenthaler, W1
Cobey, MC1
Krzakowski, Z1
Okrzeja, A1
Woszczyk, B1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Determining Individualised Gait Modification Strategies to Reduce Knee Joint Moments in Alkaptonuria Patients Using Real-time Feedback[NCT04142671]30 participants (Anticipated)Interventional2021-10-31Not yet recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

12 reviews available for homogentisic acid and Ochronosis

ArticleYear
Ochronotic arthropathy in the context of spondyloarthritis differential diagnosis: a case-based review.
    Rheumatology international, 2022, Volume: 42, Issue:12

    Topics: Aged; Alkaptonuria; Ascorbic Acid; Cartilage Diseases; Dioxygenases; Homogentisic Acid; Humans; Join

2022
A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.
    Current allergy and asthma reports, 2021, 03-05, Volume: 21, Issue:3

    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.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:5

    Topics: Alkaptonuria; Animals; Cartilage; Chondrocytes; Homogentisic Acid; Humans; Mice; Ochronosis; Oxidati

2019
Alkaptonuric patient presenting with "black" disc: a case report.
    Acta orthopaedica et traumatologica turcica, 2013, Volume: 47, Issue:2

    Topics: Alkaptonuria; Color; Diagnosis, Differential; Female; Homogentisic Acid; Humans; Intervertebral Disc

2013
Alkaptonuria: a very rare metabolic disorder.
    Indian journal of biochemistry & biophysics, 2013, Volume: 50, Issue:5

    Topics: Alkaptonuria; Homogentisic Acid; Humans; Melanins; Ochronosis

2013
Oxidative stress and mechanisms of ochronosis in alkaptonuria.
    Free radical biology & medicine, 2015, Volume: 88, Issue:Pt A

    Topics: Alkaptonuria; Homogentisic Acid; Humans; Ochronosis; Oxidative Stress

2015
Endogenous ochronosis with a predominant acrokeratoelastoidosis-like presentation.
    International journal of dermatology, 2008, Volume: 47, Issue:8

    Topics: Acrodermatitis; Adult; Biopsy, Needle; Diagnosis, Differential; Elasticity; Female; Follow-Up Studie

2008
Alkaptonuria presenting with ochronotic spondyloarthropathy.
    British journal of neurosurgery, 2008, Volume: 22, Issue:6

    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.
    Rheumatology international, 2007, Volume: 28, Issue:1

    Topics: Alkaptonuria; Anti-Inflammatory Agents, Non-Steroidal; Arthralgia; Ascorbic Acid; Back Pain; Calcino

2007
The clinical manifestations of ochronosis: a review.
    Acta clinica Belgica, 1995, Volume: 50, Issue:6

    Topics: Cardiovascular Diseases; Homogentisic Acid; Humans; Joint Diseases; Ochronosis; Pigmentation Disorde

1995
[Alkaptonuria (homogentisic aciduria)].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Alkaptonuria; Arthritis; Diagnosis, Differential; Dioxygenases; Homogentisate 1,2-Dioxygenase; Homog

1998
[Ochronotic arthropathy].
    Ugeskrift for laeger, 1973, Dec-03, Volume: 135, Issue:49

    Topics: Alkaptonuria; Ascorbic Acid; Cartilage, Articular; Homogentisic Acid; Humans; Joint Diseases; Ochron

1973

Other Studies

80 other studies available for homogentisic acid and Ochronosis

ArticleYear
Alkaptonuria in Russia.
    European journal of human genetics : EJHG, 2022, Volume: 30, Issue:2

    Topics: Alkaptonuria; Exons; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Humans; Joint Diseases; Ochro

2022
[Severe spine lesion following alkaptonuria. Case report].
    Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko, 2021, Volume: 85, Issue:5

    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.
    Scientific reports, 2021, 11-19, Volume: 11, Issue:1

    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.
    BMJ case reports, 2021, Dec-07, Volume: 14, Issue:12

    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.
    Archives of biochemistry and biophysics, 2022, 03-15, Volume: 717

    Topics: Alkaptonuria; Apoptosis; Autophagy; Biomarkers; Cartilage, Articular; Cell Line; Chondrocytes; Homog

2022
[Ochronosis: A case report].
    La Revue de medecine interne, 2022, Volume: 43, Issue:11

    Topics: Aged; Alkaptonuria; Homogentisic Acid; Humans; Knee Joint; Ochronosis; Radiography

2022
Descemet's membrane folds in ochronosis: a case report.
    Journal of medical case reports, 2022, Oct-02, Volume: 16, Issue:1

    Topics: Aged; Aged, 80 and over; Cornea; Descemet Membrane; Homogentisic Acid; Humans; Male; Ochronosis; Vis

2022
Nutritional interventions for patients with alkaptonuria: A minireview.
    Endocrine regulations, 2023, Jan-01, Volume: 57, Issue:1

    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.
    Molecules (Basel, Switzerland), 2023, Mar-14, Volume: 28, Issue:6

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Alkaptonuria; Homogentisic Acid; Humans; Molecular Docking Simu

2023
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:4

    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.
    Journal of cellular physiology, 2020, Volume: 235, Issue:10

    Topics: Alkaptonuria; beta Catenin; Bone and Bones; Cells, Cultured; Homogentisic Acid; Humans; Inflammation

2020
Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:3

    Topics: Aged; Alkaptonuria; Cohort Studies; Cyclohexanones; Female; Homogentisic Acid; Humans; Joints; Linea

2021
Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage.
    Journal of cellular physiology, 2021, Volume: 236, Issue:8

    Topics: Actins; Alkaptonuria; Cartilage, Articular; Chondrocytes; Cytoskeleton; Extracellular Matrix; Homoge

2021
Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy.
    Neurology, 2021, 03-30, Volume: 96, Issue:13

    Topics: Adult; Alkaptonuria; Bone Diseases, Metabolic; Cervical Vertebrae; Gait Disorders, Neurologic; Homog

2021
[A male with black cartilage].
    Nederlands tijdschrift voor geneeskunde, 2021, 01-27, Volume: 165

    Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Cartilage; Color; Homogentisic Acid; Humans; Incident

2021
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.
    BioMed research international, 2021, Volume: 2021

    Topics: Adolescent; Adult; Alkaptonuria; Child; Child, Preschool; Exons; Family Health; Female; Founder Effe

2021
Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:6

    Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Cartilage; Homogentisic Acid; Humans; Incidental Find

2021
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.
    Molecular genetics and metabolism, 2018, Volume: 125, Issue:1-2

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Alkaptonuria; Cyclohexanones; Disease Progression; Female; Homo

2018
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria.
    Journal of cellular physiology, 2019, Volume: 234, Issue:5

    Topics: Alkaptonuria; Cartilage, Articular; Chondrocytes; Homogentisic Acid; Humans; Ochronosis; Oxidation-R

2019
Endogenous ochronosis: when clinical suspicion prevails over histopathology.
    Dermatology online journal, 2019, Apr-15, Volume: 25, Issue:4

    Topics: Alkaptonuria; Female; Homogentisic Acid; Humans; Hyperpigmentation; Joint Diseases; Middle Aged; Och

2019
Glaucoma With Alkaptonuria as a Result of Pigment Accumulation.
    Journal of glaucoma, 2019, Volume: 28, Issue:7

    Topics: Aged; Alkaptonuria; Conjunctival Diseases; Glaucoma, Open-Angle; Gonioscopy; Homogentisic Acid; Huma

2019
Clinical and in vivo confocal microscopic findings of a patient with ocular ochronosis.
    Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 2014, Volume: 49, Issue:2

    Topics: Adult; Alkaptonuria; Conjunctival Diseases; Corneal Diseases; Corneal Pachymetry; Descemet Membrane;

2014
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.
    Journal of inherited metabolic disease, 2015, Volume: 38, Issue:5

    Topics: Alkaptonuria; Animals; Blood-Brain Barrier; Blotting, Western; Brain; Cell Line, Tumor; Homogentisat

2015
A 61-year-old man with hyperpigmentation. Ochronosis.
    Heart (British Cardiac Society), 2015, Volume: 101, Issue:17

    Topics: Aortic Valve; Aortic Valve Stenosis; Biopsy; Heart Valve Prosthesis Implantation; Homogentisic Acid;

2015
A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria.
    Clinical rheumatology, 2016, Volume: 35, Issue:7

    Topics: Alkaptonuria; Cell Line; Chondrocytes; Homogentisic Acid; Humans; Interleukin-10; Interleukin-6; Och

2016
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria?
    Medical hypotheses, 2016, Volume: 91

    Topics: Alkaptonuria; Animals; Catechol Oxidase; Collagen; Genes, Recessive; Homogentisic Acid; Humans; Mela

2016
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
    Acta orthopaedica et traumatologica turcica, 2016, Volume: 50, Issue:5

    Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Chronic Pain; Homogentisic Acid; Humans; Knee Joint;

2016
Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins.
    Biochimica et biophysica acta. General subjects, 2017, Volume: 1861, Issue:2

    Topics: Alkaptonuria; alpha-Synuclein; Amyloid beta-Peptides; Amyloidogenic Proteins; Amyloidosis; Atrial Na

2017
Exogenous Ochronosis in Facial Melasma.
    Actas dermo-sifiliograficas, 2017, Volume: 108, Issue:4

    Topics: Dermoscopy; Facial Dermatoses; Female; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Humans; Hyd

2017
[Ocular ochronosis. A case report].
    Journal francais d'ophtalmologie, 2008, Volume: 31, Issue:6 Pt 1

    Topics: Biopsy; Calcinosis; Conjunctiva; Homogentisic Acid; Humans; Intervertebral Disc; Low Back Pain; Lumb

2008
Alkaptonuria and intramedullary calcification.
    The Journal of the Association of Physicians of India, 2008, Volume: 56

    Topics: Alkaptonuria; Calcinosis; Disease Progression; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Hum

2008
Three-generational alkaptonuria in a non-consanguineous family.
    Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2

    Topics: Adult; Aged; Alkaptonuria; Biomarkers; DNA Mutational Analysis; Female; Gene Frequency; Genetic Pred

2008
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis.
    Rheumatology (Oxford, England), 2010, Volume: 49, Issue:10

    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.
    Journal of cellular physiology, 2010, Volume: 225, Issue:1

    Topics: Acetylcysteine; Alkaptonuria; Antioxidants; Apoptosis; Ascorbic Acid; Cartilage, Articular; Cell Pro

2010
Chronic low backache and stiffness may not be due ankylosing spondylitis.
    JPMA. The Journal of the Pakistan Medical Association, 2010, Volume: 60, Issue:8

    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.
    Rheumatology (Oxford, England), 2011, Volume: 50, Issue:2

    Topics: Alkaptonuria; Cells, Cultured; Homogentisic Acid; Humans; Joint Diseases; Models, Biological; Ochron

2011
Alkaptonuria.
    Dermatology online journal, 2010, Nov-15, Volume: 16, Issue:11

    Topics: Aged; Alkaptonuria; Arthritis; Cyclohexanones; Female; Homogentisic Acid; Humans; Joint Diseases; Ni

2010
Black aorta in a patient with alkaptonuria (ochronosis).
    Journal of cardiovascular medicine (Hagerstown, Md.), 2011, Volume: 12, Issue:6

    Topics: Alkaptonuria; Aortic Valve Stenosis; Female; Heart Valve Prosthesis Implantation; Homogentisic Acid;

2011
An update on molecular genetics of Alkaptonuria (AKU).
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:6

    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.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:6

    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.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:6

    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.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:6

    Topics: Alkaptonuria; Benzoquinones; Glutathione Peroxidase; Glutathione Reductase; Homogentisic Acid; Human

2011
Clinical images: Magnetic resonance imaging appearance of alkaptonuria.
    Arthritis and rheumatism, 2012, Volume: 64, Issue:1

    Topics: Alkaptonuria; Diagnosis, Differential; Gas Chromatography-Mass Spectrometry; Homogentisic Acid; Huma

2012
The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria.
    Arthritis and rheumatism, 2011, Volume: 63, Issue:12

    Topics: Alkaptonuria; Bone and Bones; Calcinosis; Cartilage, Articular; Disease Progression; Extracellular M

2011
Choice of valve prosthesis in a rare clinical condition: aortic stenosis due to alkaptonuria.
    Heart, lung & circulation, 2013, Volume: 22, Issue:10

    Topics: Aged; Alkaptonuria; Aortic Valve Stenosis; Heart Valve Prosthesis; Homogentisic Acid; Humans; Male;

2013
[Ochronosis: a case report with multisystemic affectation, including pericardium].
    Anales de medicina interna (Madrid, Spain : 1984), 2002, Volume: 19, Issue:11

    Topics: Aged; Aged, 80 and over; Alkaptonuria; Calcinosis; Dioxygenases; Female; Heart Diseases; Homogentisa

2002
Alkaptonuria caused by compound heterozygote mutations.
    Genetic counseling (Geneva, Switzerland), 2003, Volume: 14, Issue:2

    Topics: Adult; Alkaptonuria; Biopsy; Exons; Face; Heterozygote; Homogentisic Acid; Humans; Male; Ochronosis;

2003
Atmospheric oxidation of homogentisic acid: spectrophotometric studies.
    Science (New York, N.Y.), 1957, Aug-02, Volume: 126, Issue:3266

    Topics: Gentisates; Homogentisic Acid; Ochronosis; Oxidation-Reduction

1957
Studies on ochronosis. I. The distribution of homogentisic acid in guinea pigs.
    Arthritis and rheumatism, 1962, Volume: 5

    Topics: Animals; Guinea Pigs; Homogentisic Acid; Ochronosis; Phenylacetates

1962
Studies on ochronosis. 2. Effects of injection of homogentisic acid and ochronotic pigment in experimental animals.
    The American journal of pathology, 1962, Volume: 40

    Topics: Animals; Homogentisic Acid; Injections; Ochronosis; Phenylacetates

1962
Ochronotic arthropathy: arthroscopic findings in the shoulder and the knee.
    Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association, 2003, Volume: 19, Issue:8

    Topics: Adult; Arthroscopy; Cartilage, Articular; Collagen; Collagen Diseases; Homogentisic Acid; Humans; Jo

2003
[Ankylosis of the spine in a case with ochronosis].
    Acta orthopaedica et traumatologica turcica, 2003, Volume: 37, Issue:4

    Topics: Adult; Ankylosis; Calcinosis; Diagnosis, Differential; Homogentisic Acid; Humans; Low Back Pain; Lum

2003
Pigmented conjunctival lesions as initial manifestation of ochronosis.
    Archives of ophthalmology (Chicago, Ill. : 1960), 2004, Volume: 122, Issue:7

    Topics: Alkaptonuria; Conjunctival Diseases; Homogentisic Acid; Humans; Male; Middle Aged; Ochronosis; Pigme

2004
Cutaneous markers in ochronosis.
    Indian journal of medical sciences, 2005, Volume: 59, Issue:5

    Topics: Adult; Biomarkers; Chromatography, High Pressure Liquid; Female; Homogentisic Acid; Humans; Ochronos

2005
Hip arthroplasty for ochronosis.
    Saudi medical journal, 2005, Volume: 26, Issue:11

    Topics: Aged; Arthralgia; Arthroplasty, Replacement, Hip; Bone Cements; Female; Homogentisic Acid; Humans; M

2005
Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis.
    Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases, 2005, Volume: 11, Issue:6

    Topics: Alkaptonuria; Female; Follow-Up Studies; Hepatitis C; Homogentisic Acid; Humans; Liver Cirrhosis; Li

2005
Ochronosis and lumbar disc herniation.
    Acta neurochirurgica, 2006, Volume: 148, Issue:8

    Topics: Alkaptonuria; Coloring Agents; Connective Tissue Diseases; Diskectomy; Homogentisate 1,2-Dioxygenase

2006
Lower-back pain, intervertebral-disc calcification and scleral pigmentation.
    The Medical journal of Australia, 2006, Jun-19, Volume: 184, Issue:12

    Topics: Calcinosis; Cheek; Hand; Homogentisic Acid; Humans; Intervertebral Disc; Low Back Pain; Male; Middle

2006
Alcaptonuria detected in the sixth decade of life.
    Dermatologische Monatschrift, 1984, Volume: 170, Issue:7

    Topics: Alkaptonuria; Homogentisic Acid; Humans; Male; Middle Aged; Ochronosis

1984
Knee arthropathy in ochronosis: diagnosis by arthroscopy with ultrastructural features.
    The Journal of rheumatology, 1984, Volume: 11, Issue:1

    Topics: Arthritis; Arthroscopy; Chromatography, Thin Layer; Female; Homogentisic Acid; Humans; Knee Joint; M

1984
Alcaptonuria: a case complicated with valvular heart disease and immunodeficiency.
    Internal medicine (Tokyo, Japan), 1994, Volume: 33, Issue:8

    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].
    Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen, 1994, Volume: 65, Issue:11

    Topics: Alkaptonuria; Arthritis; Female; Homogentisic Acid; Humans; Knee Prosthesis; Middle Aged; Ochronosis

1994
Bilateral hip arthroplasty for ochronotic arthropathy.
    Clinical rheumatology, 2000, Volume: 19, Issue:2

    Topics: Arthroplasty, Replacement, Hip; Female; Hip Prosthesis; Homogentisic Acid; Humans; Kyphosis; Lordosi

2000
[Diagnostic image (45). Ochronosis].
    Nederlands tijdschrift voor geneeskunde, 2001, Jul-07, Volume: 145, Issue:27

    Topics: Aged; Dioxygenases; Ear Cartilage; Female; Genetic Predisposition to Disease; Homogentisate 1,2-Diox

2001
Bluish patches on the ears and axillae with dark urine: ochronosis and alkaptonuria.
    International journal of dermatology, 2001, Volume: 40, Issue:5

    Topics: Alkaptonuria; Female; Homogentisic Acid; Humans; Lumbosacral Region; Middle Aged; Ochronosis; Radiog

2001
Biochemical identification of homogentisic acid pigment in an ochronotic egyptian mummy.
    Science (New York, N.Y.), 1977, Aug-05, Volume: 197, Issue:4303

    Topics: Cartilage; History, Ancient; Homogentisic Acid; Mummies; Ochronosis; Paleopathology; Pelvic Bones; R

1977
Characterization of mummy bone ochronotic pigment.
    JAMA, 1978, Jul-14, Volume: 240, Issue:2

    Topics: Aged; Alkaptonuria; Bone and Bones; Egypt, Ancient; History, Ancient; Homogentisic Acid; Humans; Mal

1978
[Metabolic studies in brothers affected by alcaptonuria (ochronosis)].
    Medicina cutanea ibero-latino-americana, 1978, Volume: 6, Issue:1

    Topics: Adult; Homogentisic Acid; Humans; Male; Ochronosis; Pedigree

1978
Alkaptonuria with extensive ochronosis.
    Archives of dermatology, 1979, Volume: 115, Issue:4

    Topics: Alkaptonuria; Female; Homogentisic Acid; Humans; Kidney Diseases; Middle Aged; Ochronosis

1979
Alkaptonuria.
    The Johns Hopkins medical journal, 1979, Volume: 145, Issue:6

    Topics: Adolescent; Adult; Aged; Alkaptonuria; Child; Child, Preschool; Czechoslovakia; Female; Homogentisic

1979
Ochronotic arthropathy. I. Clinicopathologic studies.
    Seminars in arthritis and rheumatism, 1977, Volume: 6, Issue:3

    Topics: Adult; Alkaptonuria; Arthritis; Cartilage, Articular; Female; Homogentisic Acid; Humans; Male; Middl

1977
[Case of ochronosis].
    Polski tygodnik lekarski (Warsaw, Poland : 1960), 1976, Sep-13, Volume: 31, Issue:37

    Topics: Adult; Homogentisic Acid; Humans; Male; Ochronosis; Oxygenases

1976
Ascorbic acid and alkaptonuria.
    European journal of pediatrics, 1992, Volume: 151, Issue:2

    Topics: Alkaptonuria; Animals; Ascorbic Acid; Dioxygenases; Homogentisate 1,2-Dioxygenase; Homogentisic Acid

1992
Ochronosislike pigmentation from hydroquinone bleaching creams.
    Archives of dermatology, 1985, Volume: 121, Issue:10

    Topics: Homogentisic Acid; Humans; Hydroquinones; Ochronosis

1985
A histological, histochemical and ultrastructural study of dermal ochronosis.
    Pathology, 1971, Volume: 3, Issue:2

    Topics: Adenosine Triphosphatases; Alkaline Phosphatase; Alkaptonuria; Biopsy; Collagen; Female; Homogentisi

1971
Ochronotic arthropathy: an electron microscopical study with a view on pathogenesis.
    Archives of pathology, 1974, Volume: 98, Issue:1

    Topics: Cartilage, Articular; Cell Nucleus; Cytoplasm; Homogentisic Acid; Humans; Joint Diseases; Knee Joint

1974
[Changes in the synovial membrane and synovial fluid in ochronosis].
    Arkhiv patologii, 1972, Volume: 34, Issue:2

    Topics: Homogentisic Acid; Humans; Joint Diseases; Male; Middle Aged; Ochronosis; Synovial Fluid; Synovial M

1972
[Alkaptonuria and ochronosis].
    Deutsche medizinische Wochenschrift (1946), 1972, Feb-18, Volume: 97, Issue:7

    Topics: Alkaptonuria; Chemical Phenomena; Chemistry; Diagnosis, Differential; Female; Germany, West; Homogen

1972
Ochronosis. A case report.
    Clinical orthopaedics and related research, 1972, Volume: 87

    Topics: Female; Follow-Up Studies; Homogentisic Acid; Humans; Middle Aged; Ochronosis; Osteoarthritis

1972
[2 cases of ochronosis].
    Wiadomosci lekarskie (Warsaw, Poland : 1960), 1971, Jul-01, Volume: 24, Issue:13

    Topics: Adult; Age Factors; Diagnosis, Differential; Female; Genes, Recessive; Homogentisic Acid; Humans; Mi

1971