methylmalonic acid has been researched along with Homocystinuria in 102 studies
Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.
Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism." | 8.88 | Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. ( Carrillo-Carrasco, N; Chandler, RJ; Venditti, CP, 2012) |
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is a rare metabolic disease characterized by an inborn defect in B12 vitamin metabolism." | 8.86 | Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report. ( D'Alessandro, G; Piana, G; Tagariello, T, 2010) |
| " Chromatography of the amino acids and organic acids in the urine and plasma revealed homocystinemia, hypomethioninemia, homocystinuria and methylmalonic aciduria." | 8.78 | [Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis]. ( Casadevall, I; Chenel, C; Gourrier, E; Ogier, H; Wood, C; Zittoun, J, 1993) |
| "Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis." | 8.02 | Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type. ( Chen, T; Gong, Z; Gu, X; Han, L; Liang, L; Qiu, W; Wang, L; Xiao, B; Xu, F; Ye, J; Zhang, H; Zhu, H, 2021) |
| "Combined methylmalonic acidemia with homocystinuria is a common form of methylmalonic acidemia in China." | 7.79 | [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. ( Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW, 2013) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B(12), is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region 1p34." | 7.77 | Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. ( Chang, JT; Chen, YY; Chiu, PC; Liu, MY; Liu, TT, 2011) |
| "An increased reactive oxygen species (ROS) production and apoptosis rate have been associated with several disorders involved in cobalamin metabolism, including isolated methylmalonic aciduria (MMA) cblB type and MMA combined with homocystinuria (MMAHC) cblC type." | 7.76 | Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. ( Gámez, A; Jorge-Finnigan, A; Pérez, B; Richard, E; Ugarte, M, 2010) |
| "Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism." | 7.76 | Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. ( Della Giustina, E; Frattini, D; Fusco, C; Tavazzi, B; Ucchino, V, 2010) |
| "Methylmalonic aciduria with homocystinuria is due to deficiency of the enzyme, cobalamin reductase." | 7.76 | Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria. ( Contini, L; Corda, M; Era, B; Fais, A; Lilliu, F; Porcu, S; Traldi, P, 2010) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 7.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| "Patients with the cblC vitamin B(12) (cobalamin, cbl) disorder are defective in the intracellular synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria and methylmalonic aciduria." | 7.75 | Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. ( Froese, DS; Gravel, RA; Healy, S; Zhang, J, 2009) |
| "To characterize the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria and homocystinuria (cblC), an inborn error of cobalamin (vitamin B12) metabolism resulting in accumulation of methylmalonic acid and homocysteine." | 7.75 | High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. ( Diaz, GA; Kirmse, B; Profitlich, LE; Srivastava, S; Wasserstein, MP, 2009) |
| "Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities." | 7.74 | Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders. ( Borruat, FX; Gaillard, MC; Matthieu, JM, 2008) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 7.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| "Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12)." | 7.74 | Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. ( Aiello, C; Barbot, C; Boenzi, S; Caruso, U; Cerone, R; Danhaive, O; Deodato, F; Diogo, L; Dionisi-Vici, C; Kok, F; Leão, E; Locatelli, M; Martins, E; Moroni, I; Nogueira, C; Rizzo, C; Santorelli, FM; Schiaffino, MC; Sequeira, S; Uziel, G; Vilarinho, L, 2008) |
| "We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC)." | 7.74 | Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. ( Lerner-Ellis, JP; Morel, CF; Rosenblatt, DS; Scharer, G; Thomas, JA; Tsai, AC; Yang, M, 2007) |
| "To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene." | 7.74 | Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ( Feigenbaum, A; Gerth, C; Levin, AV; Morel, CF, 2008) |
| "Methylmalonic aciduria and homocystinuria, cblC type (MIM 277400), is the most frequent inborn error of vitamin B12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to convert Cbl to both of its active forms (MeCbl, AdoCbl)." | 7.73 | Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. ( Lerner-Ellis, JP; Morel, CF; Rosenblatt, DS, 2006) |
| " Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups." | 7.73 | Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005) |
| "The aim of this study was to assess various aspects of visual function in 6 patients (age range: 9 months to 7 years and 8 months) with methylmalonic aciduria and homocystinuria." | 7.73 | Assessment of visual function in children with methylmalonic aciduria and homocystinuria. ( Caviglia, S; Deodato, F; Dionisi-Vici, C; Mercuri, E; Pane, M; Randò, T; Ricci, D; Vasco, G, 2005) |
| "Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases." | 7.73 | Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. ( Antonicka, H; Atkinson, JL; Coulton, JW; Dobson, CM; Doré, C; Dunbar, GV; Forgetta, V; Fujiwara, TM; Gravel, RA; Hosack, AR; Leclerc, D; Lepage, P; Lerner-Ellis, JP; Moras, E; Morel, CF; Morgan, K; Pawelek, PD; Rommens, JM; Rosenblatt, DS; Shoubridge, EA; Tirone, JC; Watkins, D, 2006) |
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase." | 7.71 | Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. ( Biancheri, R; Cerone, R; Fonda, C; Gatti, R; Rossi, A; Schiaffino, MC; Tortori-Donati, P; Zammarchi, E, 2001) |
| "Methylmalonic aciduria and homocystinuria is a very rare inborn error of cellular cobalamin (Cbl) metabolism." | 7.71 | [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]. ( Aldana Gómez, J; Merinero Cortés, B; Nieto Conde, C; Reig Del Moral, C; Urbón Artero, A, 2002) |
| "Methylmalonic acidemia with associated homocystinuria is a rare inborn error of amino acid metabolism affecting energy supply on the cellular level." | 7.71 | Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria. ( Baden, W; Bosk, A; Heinemann, MK; Tomaske, M; Trefz, FK; Ziemer, G, 2001) |
| "To compare the therapeutic effectiveness of hydroxocobalamin and cyanocobalamin in patients with combined methylmalonic acidemia and homocystinuria." | 7.70 | Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). ( Andersson, HC; Shapira, E, 1998) |
| "We performed serial electroencephalograms (EEG) in a newborn with methylmalonic aciduria and homocystinuria to assess the effects of hydroxycobalamin (OHcbl) therapy on the CNS." | 7.70 | EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria. ( Bagnoli, F; Bellieni, CV; Buonocore, G; Cioni, M; De Felice, C; Farnetani, M; Ferrari, F; Gatti, MG, 2000) |
| "Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant." | 7.70 | Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. ( Chadefaux-Vekemans, B; Garcia, MJ; Jakobs, C; Kamoun, P; Merinero, B; Pérez-Cerdá, C; Tonetti, C; Ugarte, M; Zittoun, J, 1998) |
| "The eyes of a 22-month-old girl with the cobalamin C complementation type of combined methylmalonic aciduria and homocystinuria were studied with light and electron microscopy." | 7.68 | Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. ( Geraghty, MT; Green, WR; Maumenee, IH; Silva, JC; Traboulsi, EI; Valle, D, 1992) |
| "We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400)." | 7.68 | Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria. ( Bellini, C; Bonacci, W; Caruso, U; Cerone, R; Fowler, B; Magliano, CP; Romano, C; Serra, G, 1992) |
| "A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described." | 7.68 | Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. ( Baumgartner, R; Briones, P; Campistol, J; Lluch, M; Maya, A; Pascual, P; Ribes, A; Rodes, M; Suormala, T; Vilaseca, MA, 1990) |
| "We present the case of a patient with congenital methylmalonic aciduria with homocystinuria and a nondetectable electroretinogram." | 7.68 | Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria. ( Feist, RM; Fishman, GA; Ticho, BH, 1992) |
| "The original case of Cb1 C disease with homocystinuria, cystathioninuria, methylmalonic aciduria, and hypomethioninemia was reexamined because of its importance in the discovery of the homocysteine theory of arteriosclerosis." | 7.68 | Homocystinuria, arteriosclerosis, methylmalonic aciduria, and methyltransferase deficiency: a key case revisited. ( McCully, KS, 1992) |
| "We have identified a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the cb1C type mutant." | 7.67 | A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. ( Isenberg, JN; Mamlok, RJ; Norcross, K; Rassin, DK; Tallan, HH, 1986) |
| "The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria." | 7.67 | Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. ( Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL, 1988) |
| " Treatment with hydroxocobalamin and L-methionine improved the anemia and the biochemical abnormalities but apparently did not halt the retinal degeneration." | 7.67 | Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. ( Dowton, SB; Fulton, AB; Levy, HL; Robb, RM, 1984) |
| "We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C)." | 7.67 | Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. ( Dallaire, L; Geoffroy, G; Homsy, MB; Melançon, SB; Mitchell, GA; Orquin, J; Rosenblatt, DS; Watkins, D, 1986) |
| ") with the cobalamin D variant of congenital methylmalonic aciduria-homocystinuria, whose previously reported lack of megaloblastic anemia conflicted with current concepts of cobalamin's role in DNA synthesis and the "methyltetrahydrofolate (MTHF) trap" hypothesis." | 7.66 | Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man. ( Carmel, R; Goodman, SI, 1982) |
| " He was found to have methylmalonic aciduria (79 mumol per milligram of creatinine) and homocystinuria (0." | 7.66 | A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. ( Higginbottom, MC; Nyhan, WL; Sweetman, L, 1978) |
| "Biochemical investigations are reported in an infant with methylmalonic aciduria and homocystinuria who died at 4 months of age." | 7.66 | Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. ( Bachmann, C; Baumgartner, ER; Gaull, GE; Linnell, JC; Steinmann, B; Wick, H, 1979) |
| "We hypothesize that acute cor pulmonale developed in this infant secondary to thromboembolism of his pulmonary circulation." | 5.28 | Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type). ( Brandstetter, Y; Splaingard, ML; Tang, TT; Weinhouse, E, 1990) |
| "Inherited disorders of cobalamin (cbl) metabolism (cblA-J) result in accumulation of methylmalonic acid (MMA) and/or homocystinuria (HCU)." | 5.22 | Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review. ( Coelho, D; Conart, JB; Dionisi-Vici, C; Guéant, JL; Guéant-Rodriguez, RM; Matmat, K; Oussalah, A; Wiedemann-Fodé, A, 2022) |
| " However, there is robust evidence for the success of early treatment with diet, betaine and/or pyridoxine for CBS deficiency and good evidence for the success of early betaine treatment in severe MTHFR deficiency." | 4.91 | Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. ( Baumgartner, MR; Blom, HJ; Huemer, M; Kožich, V; Merinero, B; Pasquini, E; Ribes, A; Rinaldo, P, 2015) |
| "Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a wide spectrum of clinical manifestations that is stated to be the most common inherited disorder of cobalamin metabolism." | 4.88 | Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. ( Carrillo-Carrasco, N; Chandler, RJ; Venditti, CP, 2012) |
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is a rare metabolic disease characterized by an inborn defect in B12 vitamin metabolism." | 4.86 | Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report. ( D'Alessandro, G; Piana, G; Tagariello, T, 2010) |
| " Chromatography of the amino acids and organic acids in the urine and plasma revealed homocystinemia, hypomethioninemia, homocystinuria and methylmalonic aciduria." | 4.78 | [Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis]. ( Casadevall, I; Chenel, C; Gourrier, E; Ogier, H; Wood, C; Zittoun, J, 1993) |
| "Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis." | 4.02 | Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type. ( Chen, T; Gong, Z; Gu, X; Han, L; Liang, L; Qiu, W; Wang, L; Xiao, B; Xu, F; Ye, J; Zhang, H; Zhu, H, 2021) |
| "Cobalamin J disease (CblJ) is an ultra-rare autosomal recessive disorder of intracellular cobalamin metabolism associated with combined methylmalonic acidemia and homocystinuria." | 4.02 | Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course. ( Aggarwal, A; Berry, SA; Miller, D; Pierpont, EI; Pillai, NR, 2021) |
| "Combined methylmalonic aciduria with homocystinuria (cblC type) is a rare disease caused by mutations in the MMACHC gene." | 4.02 | Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. ( Baumgartner, MR; Forny, M; Froese, DS; Grimm, C; Kiessling, E; Kožich, V; Krijt, J; Nötzli, S; Samardzija, M; Todorova, V, 2021) |
| "The Cobalamin C deficiency (cblC), characterized with elevated methylmalonic acidemia and homocystinuria in plasma, is an inborn error of cobalamin metabolism." | 3.88 | Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations. ( Liu, YM; Wang, SJ; Yan, CZ; Zhao, YY, 2018) |
| "To describe the retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused by mutations in the MMACHC gene, using spectral domain optical coherence tomography (SD-OCT)." | 3.85 | Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients. ( Bacci, GM; Bussolin, L; Caputo, R; Cavicchi, C; Defilippi, C; Donati, MA; Garcia Segarra, N; Morrone, A; Munier, F; Murro, V; Pasquini, E; Sodi, A, 2017) |
| "Combined methylmalonic acidemia with homocystinuria is a common form of methylmalonic acidemia in China." | 3.79 | [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. ( Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW, 2013) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B(12), is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region 1p34." | 3.77 | Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. ( Chang, JT; Chen, YY; Chiu, PC; Liu, MY; Liu, TT, 2011) |
| "Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism." | 3.76 | Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. ( Froese, DS; Gravel, RA; Healy, S; Kochan, G; McDonald, M; Niesen, FH; Oppermann, U, 2010) |
| "Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism." | 3.76 | Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. ( Della Giustina, E; Frattini, D; Fusco, C; Tavazzi, B; Ucchino, V, 2010) |
| "An increased reactive oxygen species (ROS) production and apoptosis rate have been associated with several disorders involved in cobalamin metabolism, including isolated methylmalonic aciduria (MMA) cblB type and MMA combined with homocystinuria (MMAHC) cblC type." | 3.76 | Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. ( Gámez, A; Jorge-Finnigan, A; Pérez, B; Richard, E; Ugarte, M, 2010) |
| "Methylmalonic aciduria with homocystinuria is due to deficiency of the enzyme, cobalamin reductase." | 3.76 | Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria. ( Contini, L; Corda, M; Era, B; Fais, A; Lilliu, F; Porcu, S; Traldi, P, 2010) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 3.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| " The results of molecular analysis of the MMADHC gene are consistent with the hypothesis that mutations affecting the N terminus of the MMADHC protein are associated with methylmalonic aciduria, and mutations affecting the C terminus are associated with homocystinuria." | 3.75 | Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. ( Bernstein, JA; Coelho, D; Cowan, T; Crombez, EA; Enns, GM; Fowler, B; Lee-Messer, C; Miousse, IR; Rosenblatt, DS; Rupar, T; Vilain, E; Watkins, D, 2009) |
| "To characterize the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria and homocystinuria (cblC), an inborn error of cobalamin (vitamin B12) metabolism resulting in accumulation of methylmalonic acid and homocysteine." | 3.75 | High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. ( Diaz, GA; Kirmse, B; Profitlich, LE; Srivastava, S; Wasserstein, MP, 2009) |
| "Patients with the cblC vitamin B(12) (cobalamin, cbl) disorder are defective in the intracellular synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria and methylmalonic aciduria." | 3.75 | Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. ( Froese, DS; Gravel, RA; Healy, S; Zhang, J, 2009) |
| "We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC)." | 3.74 | Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. ( Lerner-Ellis, JP; Morel, CF; Rosenblatt, DS; Scharer, G; Thomas, JA; Tsai, AC; Yang, M, 2007) |
| "Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12)." | 3.74 | Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. ( Aiello, C; Barbot, C; Boenzi, S; Caruso, U; Cerone, R; Danhaive, O; Deodato, F; Diogo, L; Dionisi-Vici, C; Kok, F; Leão, E; Locatelli, M; Martins, E; Moroni, I; Nogueira, C; Rizzo, C; Santorelli, FM; Schiaffino, MC; Sequeira, S; Uziel, G; Vilarinho, L, 2008) |
| "2, and a candidate gene, designated MMADHC (methylmalonic aciduria, cblD type, and homocystinuria), was identified in this region." | 3.74 | Gene identification for the cblD defect of vitamin B12 metabolism. ( Baumgartner, MR; Coelho, D; Fowler, B; Lerner-Ellis, JP; Newbold, RF; Rosenblatt, DS; Stucki, M; Suormala, T, 2008) |
| "Cobalamin C methylmalonic aciduria with homocystinuria (cblC disease) is a rare hereditary inborn error of cobalamin metabolism, characterised by neurological, haematological and ophthalmological abnormalities." | 3.74 | Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders. ( Borruat, FX; Gaillard, MC; Matthieu, JM, 2008) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 3.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| "To assess and compare longitudinal visual function and retinal morphology in patients with methylmalonic aciduria with homocystinuria, cobalamin C type (cblC), and identified mutations in the MMACHC gene." | 3.74 | Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ( Feigenbaum, A; Gerth, C; Levin, AV; Morel, CF, 2008) |
| "Cobalamin C disease is a rare genetic condition resulting in methylmalonic aciduria, homocystinuria, and hematologic abnormalities." | 3.73 | Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis. ( Coates, T; Gonzalez-Gomez, I; Wu, S; Yano, S, 2005) |
| "The aim of this study was to assess various aspects of visual function in 6 patients (age range: 9 months to 7 years and 8 months) with methylmalonic aciduria and homocystinuria." | 3.73 | Assessment of visual function in children with methylmalonic aciduria and homocystinuria. ( Caviglia, S; Deodato, F; Dionisi-Vici, C; Mercuri, E; Pane, M; Randò, T; Ricci, D; Vasco, G, 2005) |
| "Methylmalonic aciduria and homocystinuria, cblC type (MIM 277400), is the most frequent inborn error of vitamin B12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to convert Cbl to both of its active forms (MeCbl, AdoCbl)." | 3.73 | Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. ( Lerner-Ellis, JP; Morel, CF; Rosenblatt, DS, 2006) |
| "Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases." | 3.73 | Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. ( Antonicka, H; Atkinson, JL; Coulton, JW; Dobson, CM; Doré, C; Dunbar, GV; Forgetta, V; Fujiwara, TM; Gravel, RA; Hosack, AR; Leclerc, D; Lepage, P; Lerner-Ellis, JP; Moras, E; Morel, CF; Morgan, K; Pawelek, PD; Rommens, JM; Rosenblatt, DS; Shoubridge, EA; Tirone, JC; Watkins, D, 2006) |
| " Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups." | 3.73 | Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005) |
| " We have studied 27 patients of age from 3 months to 3 years: PKU -- 15 cases; homocystinuria -- 4; hyper-prolinemia -- 1; methylmalonic acidemia -- 5 and combined disorders -- 2." | 3.73 | [Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system]. ( Geladze, NM; Khachapuridze, NS; Mindadze, AB; Pulariani, TD, 2005) |
| "Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine synthase." | 3.71 | Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. ( Biancheri, R; Cerone, R; Fonda, C; Gatti, R; Rossi, A; Schiaffino, MC; Tortori-Donati, P; Zammarchi, E, 2001) |
| "Methylmalonic aciduria and homocystinuria is a very rare inborn error of cellular cobalamin (Cbl) metabolism." | 3.71 | [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]. ( Aldana Gómez, J; Merinero Cortés, B; Nieto Conde, C; Reig Del Moral, C; Urbón Artero, A, 2002) |
| "An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD." | 3.71 | CblC/D defect combined with haemodynamically highly relevant VSD. ( Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK, 2001) |
| "To describe epilepsy and EEG findings in the early-onset cobalamin (Cbl) C/D deficiency, an inborn error of intracellular Cbl metabolism characterized by high plasma levels of methylmalonic acid, homocystine, and homocysteine." | 3.71 | Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. ( Biancheri, R; Caruso, U; Cerone, R; Minniti, G; Perrone, MV; Rossi, A; Schiaffino, MC; Tortori-Donati, P; Veneselli, E, 2002) |
| "Methylmalonic acidemia with associated homocystinuria is a rare inborn error of amino acid metabolism affecting energy supply on the cellular level." | 3.71 | Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria. ( Baden, W; Bosk, A; Heinemann, MK; Tomaske, M; Trefz, FK; Ziemer, G, 2001) |
| "Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant." | 3.70 | Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. ( Chadefaux-Vekemans, B; Garcia, MJ; Jakobs, C; Kamoun, P; Merinero, B; Pérez-Cerdá, C; Tonetti, C; Ugarte, M; Zittoun, J, 1998) |
| "We performed serial electroencephalograms (EEG) in a newborn with methylmalonic aciduria and homocystinuria to assess the effects of hydroxycobalamin (OHcbl) therapy on the CNS." | 3.70 | EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria. ( Bagnoli, F; Bellieni, CV; Buonocore, G; Cioni, M; De Felice, C; Farnetani, M; Ferrari, F; Gatti, MG, 2000) |
| "To compare the therapeutic effectiveness of hydroxocobalamin and cyanocobalamin in patients with combined methylmalonic acidemia and homocystinuria." | 3.70 | Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). ( Andersson, HC; Shapira, E, 1998) |
| "We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400)." | 3.68 | Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria. ( Bellini, C; Bonacci, W; Caruso, U; Cerone, R; Fowler, B; Magliano, CP; Romano, C; Serra, G, 1992) |
| "The eyes of a 22-month-old girl with the cobalamin C complementation type of combined methylmalonic aciduria and homocystinuria were studied with light and electron microscopy." | 3.68 | Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. ( Geraghty, MT; Green, WR; Maumenee, IH; Silva, JC; Traboulsi, EI; Valle, D, 1992) |
| "The original case of Cb1 C disease with homocystinuria, cystathioninuria, methylmalonic aciduria, and hypomethioninemia was reexamined because of its importance in the discovery of the homocysteine theory of arteriosclerosis." | 3.68 | Homocystinuria, arteriosclerosis, methylmalonic aciduria, and methyltransferase deficiency: a key case revisited. ( McCully, KS, 1992) |
| "We present the case of a patient with congenital methylmalonic aciduria with homocystinuria and a nondetectable electroretinogram." | 3.68 | Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria. ( Feist, RM; Fishman, GA; Ticho, BH, 1992) |
| "A patient with infantile onset methylmalonic aciduria and homocystinuria (Cbl-C mutant) is described." | 3.68 | Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient. ( Baumgartner, R; Briones, P; Campistol, J; Lluch, M; Maya, A; Pascual, P; Ribes, A; Rodes, M; Suormala, T; Vilaseca, MA, 1990) |
| "We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure." | 3.68 | Cobalamin C defect associated with hemolytic-uremic syndrome. ( Casella, JF; Geraghty, MT; Hayflick, SJ; Martin, LS; Perlman, EJ; Rosenblatt, DS; Valle, D, 1992) |
| " Treatment with hydroxocobalamin and L-methionine improved the anemia and the biochemical abnormalities but apparently did not halt the retinal degeneration." | 3.67 | Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. ( Dowton, SB; Fulton, AB; Levy, HL; Robb, RM, 1984) |
| "We have identified a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the cb1C type mutant." | 3.67 | A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. ( Isenberg, JN; Mamlok, RJ; Norcross, K; Rassin, DK; Tallan, HH, 1986) |
| "The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria." | 3.67 | Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. ( Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL, 1988) |
| "We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C)." | 3.67 | Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. ( Dallaire, L; Geoffroy, G; Homsy, MB; Melançon, SB; Mitchell, GA; Orquin, J; Rosenblatt, DS; Watkins, D, 1986) |
| "Biochemical investigations are reported in an infant with methylmalonic aciduria and homocystinuria who died at 4 months of age." | 3.66 | Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations. ( Bachmann, C; Baumgartner, ER; Gaull, GE; Linnell, JC; Steinmann, B; Wick, H, 1979) |
| ") with the cobalamin D variant of congenital methylmalonic aciduria-homocystinuria, whose previously reported lack of megaloblastic anemia conflicted with current concepts of cobalamin's role in DNA synthesis and the "methyltetrahydrofolate (MTHF) trap" hypothesis." | 3.66 | Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man. ( Carmel, R; Goodman, SI, 1982) |
| "A case of methylmalonic acidemia with intermittend homocystinuria is described." | 3.66 | [A case of cobalamin-dependent methylmalonic acidemia. Biochemical aspects, diagnosis and possible treatment (author's transl)]. ( Lehnert, W; Leupold, D; Schuchmann, L, 1978) |
| " He was found to have methylmalonic aciduria (79 mumol per milligram of creatinine) and homocystinuria (0." | 3.66 | A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. ( Higginbottom, MC; Nyhan, WL; Sweetman, L, 1978) |
| "Their physical examination showed sensory ataxia." | 1.51 | Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review. ( Cui, J; Cui, X; Wang, L; Wang, Y; Zhang, H; Zheng, H, 2019) |
| "Malignant hypertension was diagnosed." | 1.40 | Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. ( Benoist, JF; Cornec-Le Gall, E; De Parscau, L; Delmas, Y; Doucet, L; Fremeaux-Bacchi, V; Le Meur, Y; Ogier, H, 2014) |
| "Methylmalonic aciduria is a common organic aciduria disease." | 1.33 | Clinical and biochemical studies on Chinese patients with methylmalonic aciduria. ( Hasegawa, Y; Jiang, Y; Qin, J; Song, J; Sun, F; Wu, X; Yamaguchi, S; Yang, Y; Zhang, Y, 2006) |
| "Mental retardation was identified in most of the cases." | 1.31 | Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases. ( Biancheri, R; Caruso, U; Cerone, R; Gatti, R; Perrone, MV; Rossi, A; Schiaffino, MC; Veneselli, E, 2001) |
| "Predominant clinical features include microcephaly, hydrocephalus, seizures, and white-matter changes on magnetic resonance imaging in early-onset cases." | 1.31 | Practical management of combined methylmalonicaciduria and homocystinuria. ( Bodamer, OA; Smith, DL, 2002) |
| "We hypothesize that acute cor pulmonale developed in this infant secondary to thromboembolism of his pulmonary circulation." | 1.28 | Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type). ( Brandstetter, Y; Splaingard, ML; Tang, TT; Weinhouse, E, 1990) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 20 (19.61) | 18.7374 |
| 1990's | 20 (19.61) | 18.2507 |
| 2000's | 35 (34.31) | 29.6817 |
| 2010's | 20 (19.61) | 24.3611 |
| 2020's | 7 (6.86) | 2.80 |
| Authors | Studies |
|---|---|
| Matmat, K | 1 |
| Guéant-Rodriguez, RM | 1 |
| Oussalah, A | 1 |
| Wiedemann-Fodé, A | 1 |
| Dionisi-Vici, C | 5 |
| Coelho, D | 3 |
| Guéant, JL | 1 |
| Conart, JB | 1 |
| Nguyen, MG | 1 |
| Tronick, L | 1 |
| Modirian, F | 1 |
| Mardach, R | 1 |
| Besterman, AD | 1 |
| Ding, S | 1 |
| Ling, S | 1 |
| Liang, L | 2 |
| Qiu, W | 3 |
| Zhang, H | 4 |
| Chen, T | 2 |
| Zhan, X | 1 |
| Xu, F | 2 |
| Gu, X | 3 |
| Han, L | 3 |
| Cui, J | 1 |
| Wang, Y | 3 |
| Cui, X | 1 |
| Wang, L | 2 |
| Zheng, H | 1 |
| Wen, LY | 1 |
| Guo, YK | 1 |
| Shi, XQ | 1 |
| Ye, J | 3 |
| Xiao, B | 1 |
| Zhu, H | 1 |
| Gong, Z | 1 |
| Pillai, NR | 1 |
| Miller, D | 1 |
| Pierpont, EI | 1 |
| Berry, SA | 1 |
| Aggarwal, A | 1 |
| Kiessling, E | 1 |
| Nötzli, S | 1 |
| Todorova, V | 1 |
| Forny, M | 1 |
| Baumgartner, MR | 6 |
| Samardzija, M | 1 |
| Krijt, J | 1 |
| Kožich, V | 4 |
| Grimm, C | 1 |
| Froese, DS | 5 |
| Bacci, GM | 1 |
| Donati, MA | 1 |
| Pasquini, E | 3 |
| Munier, F | 1 |
| Cavicchi, C | 1 |
| Morrone, A | 1 |
| Sodi, A | 1 |
| Murro, V | 1 |
| Garcia Segarra, N | 1 |
| Defilippi, C | 1 |
| Bussolin, L | 1 |
| Caputo, R | 1 |
| Wang, SJ | 1 |
| Yan, CZ | 1 |
| Liu, YM | 1 |
| Zhao, YY | 1 |
| Keller, R | 1 |
| Chrastina, P | 1 |
| Pavlíková, M | 1 |
| Gouveia, S | 2 |
| Ribes, A | 4 |
| Kölker, S | 2 |
| Blom, HJ | 3 |
| Bártl, J | 1 |
| Gleich, F | 2 |
| Morris, AA | 2 |
| Huemer, M | 3 |
| Barić, I | 1 |
| Ben-Omran, T | 1 |
| Blasco-Alonso, J | 2 |
| Bueno Delgado, MA | 1 |
| Carducci, C | 1 |
| Cassanello, M | 1 |
| Cerone, R | 10 |
| Couce, ML | 2 |
| Crushell, E | 2 |
| Delgado Pecellin, C | 1 |
| Dulin, E | 1 |
| Espada, M | 1 |
| Ferino, G | 1 |
| Fingerhut, R | 1 |
| Garcia Jimenez, I | 1 |
| Gonzalez Gallego, I | 1 |
| González-Irazabal, Y | 1 |
| Gramer, G | 1 |
| Juan Fita, MJ | 1 |
| Karg, E | 1 |
| Klein, J | 1 |
| Konstantopoulou, V | 2 |
| la Marca, G | 1 |
| Leão Teles, E | 1 |
| Leuzzi, V | 1 |
| Lilliu, F | 2 |
| Lopez, RM | 1 |
| Lund, AM | 2 |
| Mayne, P | 1 |
| Meavilla, S | 1 |
| Moat, SJ | 1 |
| Okun, JG | 1 |
| Pedron-Giner, CC | 1 |
| Racz, GZ | 1 |
| Ruiz Gomez, MA | 2 |
| Vilarinho, L | 2 |
| Yahyaoui, R | 1 |
| Zerjav Tansek, M | 1 |
| Zetterström, RH | 1 |
| Zeyda, M | 1 |
| Diodato, D | 1 |
| Martinelli, D | 1 |
| Olivieri, G | 1 |
| Blom, H | 1 |
| Seifert, B | 1 |
| Martin, CA | 1 |
| Baethmann, M | 1 |
| Ballhausen, D | 1 |
| Boy, N | 1 |
| Bueno, M | 1 |
| Burgos Peláez, R | 1 |
| Chabrol, B | 1 |
| Chapman, KA | 1 |
| Dalmau Serra, J | 1 |
| Diogo, L | 2 |
| Ficicioglu, C | 1 |
| García Jimenez, MC | 1 |
| García Silva, MT | 1 |
| Gaspar, AM | 1 |
| Gautschi, M | 1 |
| González-Lamuño, D | 1 |
| Grünewald, S | 1 |
| Hendriksz, C | 1 |
| Janssen, MCH | 1 |
| Jesina, P | 1 |
| Koch, J | 1 |
| Lavigne, C | 1 |
| Martins, EG | 1 |
| Meavilla Olivas, S | 1 |
| Mention, K | 1 |
| Mochel, F | 1 |
| Mundy, H | 1 |
| Murphy, E | 1 |
| Paquay, S | 1 |
| Pedrón-Giner, C | 1 |
| Santra, S | 1 |
| Schiff, M | 1 |
| Schwartz, IV | 1 |
| Scholl-Bürgi, S | 1 |
| Servais, A | 1 |
| Skouma, A | 1 |
| Tran, C | 1 |
| Vives Piñera, I | 1 |
| Walter, J | 1 |
| Weisfeld-Adams, J | 1 |
| Huang, Z | 1 |
| Han, LS | 1 |
| Qiu, WJ | 1 |
| Zhang, HW | 1 |
| Gao, XL | 1 |
| Ji, WJ | 1 |
| Li, XY | 1 |
| Gu, XF | 1 |
| Cornec-Le Gall, E | 1 |
| Delmas, Y | 1 |
| De Parscau, L | 1 |
| Doucet, L | 1 |
| Ogier, H | 2 |
| Benoist, JF | 1 |
| Fremeaux-Bacchi, V | 1 |
| Le Meur, Y | 1 |
| Jusufi, J | 1 |
| Suormala, T | 3 |
| Burda, P | 1 |
| Fowler, B | 6 |
| Rinaldo, P | 1 |
| Merinero, B | 2 |
| Han, B | 1 |
| Cao, Z | 1 |
| Tian, L | 1 |
| Zou, H | 1 |
| Yang, L | 1 |
| Zhu, W | 1 |
| Liu, Y | 1 |
| Gerth, C | 1 |
| Morel, CF | 4 |
| Feigenbaum, A | 1 |
| Levin, AV | 1 |
| Miousse, IR | 1 |
| Watkins, D | 5 |
| Rupar, T | 1 |
| Crombez, EA | 1 |
| Vilain, E | 1 |
| Bernstein, JA | 1 |
| Cowan, T | 1 |
| Lee-Messer, C | 1 |
| Enns, GM | 1 |
| Rosenblatt, DS | 13 |
| Younessi, D | 1 |
| Moseley, K | 1 |
| Yano, S | 2 |
| Zhang, J | 1 |
| Healy, S | 2 |
| Gravel, RA | 3 |
| Profitlich, LE | 1 |
| Kirmse, B | 1 |
| Wasserstein, MP | 2 |
| Diaz, GA | 2 |
| Srivastava, S | 1 |
| Weisfeld-Adams, JD | 1 |
| Morrissey, MA | 1 |
| Kirmse, BM | 1 |
| Salveson, BR | 1 |
| McGuire, PJ | 1 |
| Sunny, S | 1 |
| Cohen-Pfeffer, JL | 1 |
| Yu, C | 1 |
| Caggana, M | 1 |
| Porcu, S | 1 |
| Corda, M | 1 |
| Contini, L | 1 |
| Era, B | 1 |
| Traldi, P | 1 |
| Fais, A | 1 |
| McDonald, M | 1 |
| Kochan, G | 1 |
| Oppermann, U | 1 |
| Niesen, FH | 1 |
| D'Alessandro, G | 1 |
| Tagariello, T | 1 |
| Piana, G | 1 |
| Frattini, D | 1 |
| Fusco, C | 1 |
| Ucchino, V | 1 |
| Tavazzi, B | 1 |
| Della Giustina, E | 1 |
| Jorge-Finnigan, A | 1 |
| Gámez, A | 1 |
| Pérez, B | 1 |
| Ugarte, M | 2 |
| Richard, E | 1 |
| Francis, JH | 1 |
| Rao, L | 1 |
| Rosen, RB | 1 |
| Wang, F | 1 |
| Yang, Y | 2 |
| Zhang, Y | 2 |
| Gao, X | 1 |
| Carrillo-Carrasco, N | 1 |
| Chandler, RJ | 1 |
| Venditti, CP | 1 |
| Chang, JT | 1 |
| Chen, YY | 1 |
| Liu, TT | 1 |
| Liu, MY | 1 |
| Chiu, PC | 1 |
| Smith, DL | 1 |
| Bodamer, OA | 3 |
| Francis, PJ | 1 |
| Calver, DM | 1 |
| Barnfield, P | 1 |
| Turner, C | 1 |
| Dalton, RN | 1 |
| Champion, MP | 1 |
| Sahoo, T | 1 |
| Beaudet, AL | 2 |
| O'Brien, WE | 1 |
| Bottiglieri, T | 1 |
| Stöckler-Ipsiroglu, S | 1 |
| Wagner, C | 1 |
| Scaglia, F | 1 |
| Ricci, D | 1 |
| Pane, M | 1 |
| Deodato, F | 2 |
| Vasco, G | 1 |
| Randò, T | 1 |
| Caviglia, S | 1 |
| Mercuri, E | 1 |
| Tsina, EK | 1 |
| Marsden, DL | 1 |
| Hansen, RM | 1 |
| Fulton, AB | 2 |
| Wu, S | 1 |
| Gonzalez-Gomez, I | 1 |
| Coates, T | 1 |
| Lerner-Ellis, JP | 4 |
| Tirone, JC | 1 |
| Pawelek, PD | 1 |
| Doré, C | 1 |
| Atkinson, JL | 1 |
| Fujiwara, TM | 1 |
| Moras, E | 1 |
| Hosack, AR | 1 |
| Dunbar, GV | 1 |
| Antonicka, H | 1 |
| Forgetta, V | 1 |
| Dobson, CM | 1 |
| Leclerc, D | 1 |
| Shoubridge, EA | 1 |
| Coulton, JW | 1 |
| Lepage, P | 1 |
| Rommens, JM | 1 |
| Morgan, K | 1 |
| Pulariani, TD | 1 |
| Geladze, NM | 1 |
| Khachapuridze, NS | 1 |
| Mindadze, AB | 1 |
| Thiele, J | 1 |
| Van Raamsdonk, JM | 1 |
| Yuen, YP | 1 |
| Lai, CK | 1 |
| Chan, YW | 1 |
| Lam, CW | 1 |
| Tong, SF | 1 |
| Chan, KY | 1 |
| Sun, F | 1 |
| Song, J | 1 |
| Hasegawa, Y | 1 |
| Yamaguchi, S | 1 |
| Jiang, Y | 1 |
| Qin, J | 1 |
| Wu, X | 1 |
| Heil, SG | 1 |
| Hogeveen, M | 1 |
| Kluijtmans, LA | 1 |
| van Dijken, PJ | 1 |
| van de Berg, GB | 1 |
| Morava, E | 1 |
| Tsai, AC | 1 |
| Scharer, G | 1 |
| Yang, M | 1 |
| Thomas, JA | 1 |
| Sharma, AP | 1 |
| Greenberg, CR | 1 |
| Prasad, AN | 1 |
| Prasad, C | 1 |
| Nogueira, C | 1 |
| Aiello, C | 1 |
| Martins, E | 1 |
| Caruso, U | 7 |
| Moroni, I | 1 |
| Rizzo, C | 1 |
| Leão, E | 1 |
| Kok, F | 1 |
| Schiaffino, MC | 6 |
| Boenzi, S | 1 |
| Danhaive, O | 1 |
| Barbot, C | 1 |
| Sequeira, S | 1 |
| Locatelli, M | 1 |
| Santorelli, FM | 1 |
| Uziel, G | 1 |
| Thauvin-Robinet, C | 1 |
| Roze, E | 1 |
| Couvreur, G | 1 |
| Horellou, MH | 1 |
| Sedel, F | 1 |
| Grabli, D | 1 |
| Bruneteau, G | 1 |
| Tonneti, C | 1 |
| Masurel-Paulet, A | 1 |
| Perennou, D | 1 |
| Moreau, T | 1 |
| Giroud, M | 1 |
| de Baulny, HO | 1 |
| Giraudier, S | 1 |
| Faivre, L | 1 |
| Stucki, M | 1 |
| Newbold, RF | 1 |
| Gaillard, MC | 1 |
| Matthieu, JM | 1 |
| Borruat, FX | 1 |
| Vilaseca, MA | 2 |
| Briones, P | 2 |
| Maya, A | 2 |
| Sabater, J | 1 |
| Pascual, P | 2 |
| Alvarez, L | 1 |
| Ros, J | 1 |
| Gonzalez Pascual, E | 1 |
| Robb, RM | 1 |
| Dowton, SB | 1 |
| Levy, HL | 1 |
| Shinnar, S | 1 |
| Singer, HS | 1 |
| Matthews, DM | 1 |
| Linnell, JC | 2 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect[NCT01793090] | Phase 2 | 30 participants (Actual) | Interventional | 2013-01-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
11 reviews available for methylmalonic acid and Homocystinuria
| Article | Year |
|---|---|
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Topics: Amino Acid Metabolism, Inborn Errors; Homocystinuria; Humans; Macular Degeneration; Methylmalonic Ac | 2022 |
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.
Topics: Amino Acid Metabolism, Inborn Errors; Autism Spectrum Disorder; Carrier Proteins; Homocystinuria; Hu | 2022 |
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Topics: Acetylcarnitine; Betaine; Carnitine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylatio | 2015 |
Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report.
Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Face; Female; Homocystinuria; Humans; Me | 2010 |
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Child; Child, Preschool; Female; | 2012 |
Cobalamin deficiency and related disorders in infancy and childhood.
Topics: Child, Preschool; Diagnosis, Differential; Female; Folic Acid Deficiency; Homocystinuria; Humans; In | 1982 |
Inherited disorders of cobalamin metabolism.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Animals; Bacterial Proteins; Biological E | 1994 |
[Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency. Value of etiological diagnosis].
Topics: Female; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant, Newborn; Methylmalonic Acid; Vita | 1993 |
[Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria].
Topics: Fatal Outcome; Female; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant, Newborn; Methylmal | 1996 |
The dietary therapy of inherited metabolic disease.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C | 1975 |
The dietary treatment of inborn errors of metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Child; Female; Folic Acid; | 1976 |
91 other studies available for methylmalonic acid and Homocystinuria
| Article | Year |
|---|---|
Late-onset cblC defect: clinical, biochemical and molecular analysis.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Homocys | 2023 |
Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review.
Topics: Adolescent; Ataxia; Brain; Carrier Proteins; Child; Female; Homocysteine; Homocystinuria; Humans; In | 2019 |
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Homocystinuria; Humans; Hypertension, Pulmonary | 2020 |
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Homocysteine; Homocystinuria; Humans; | 2021 |
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Topics: Amino Acid Metabolism, Inborn Errors; ATP-Binding Cassette Transporters; Female; Genetic Predisposit | 2021 |
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Animals; Female; H | 2021 |
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Topics: Carrier Proteins; Child; Child, Preschool; DNA; DNA Mutational Analysis; Electroretinography; Female | 2017 |
Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.
Topics: Adolescent; Adult; Asian People; Atrophy; Brain; Brain Diseases; Carrier Proteins; Child; Child, Pre | 2018 |
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferas | 2019 |
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cros | 2019 |
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child; Child, Preschool | 2013 |
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Antibodies, Monoclonal, Humanized; Betaine; Biopsy; Car | 2014 |
Characterization of functional domains of the cblD (MMADHC) gene product.
Topics: Amino Acid Sequence; Cells, Cultured; Cloning, Molecular; Cobamides; Coenzymes; Homocystinuria; Huma | 2014 |
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
Topics: Amino Acid Metabolism, Inborn Errors; Carrier Proteins; China; DNA Mutational Analysis; Female; Gene | 2016 |
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
Topics: Adolescent; Age of Onset; Anterior Eye Segment; Carrier Proteins; Child; Child, Preschool; Disease P | 2008 |
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Cobamides; Family Health; Female; Fibroblasts | 2009 |
Creatine metabolism in combined methylmalonic aciduria and homocystinuria disease revisited.
Topics: Amino Acid Metabolism, Inborn Errors; Creatine; Homocystinuria; Humans; Methylmalonic Acid | 2009 |
Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
Topics: Amino Acid Substitution; Carrier Proteins; Electrophoresis, Polyacrylamide Gel; Homocystinuria; Huma | 2009 |
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Demography; Diagnostic Imaging; Female; Folic Acid; Hear | 2009 |
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Asso | 2010 |
Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria.
Topics: Acidosis; Adult; Biomarkers; Child, Preschool; Chromatography, Liquid; Homocystinuria; Humans; Male; | 2010 |
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.
Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Cobamides; Fluorometry; Homocy | 2010 |
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
Topics: Demyelinating Diseases; Female; Genetic Association Studies; Homocystinuria; Humans; Infant; Methylm | 2010 |
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
Topics: Amino Acid Metabolism, Inborn Errors; Apoptosis; Apoptosis Regulatory Proteins; Blotting, Western; C | 2010 |
Methylmalonic aciduria and homocystinuria-associated maculopathy.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Homocysteine; Homocystinuria; Humans; Macula | 2010 |
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Carrier Proteins; Child, Preschool; Chi | 2010 |
Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
Topics: Carrier Proteins; Genotype; Homocystinuria; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors | 2011 |
Practical management of combined methylmalonicaciduria and homocystinuria.
Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal | 2002 |
An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury.
Topics: Child Abuse; Diagnosis, Differential; Female; Hematoma; Hematoma, Subdural; Homocystinuria; Humans; | 2004 |
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Female; Glycine; Hom | 2005 |
Assessment of visual function in children with methylmalonic aciduria and homocystinuria.
Topics: Attention; Child; Child Development; Child, Preschool; Cognition; Homocystinuria; Humans; Infant; Me | 2005 |
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Cobamides; Female; Homocysteine; Homocystinuria; Huma | 2005 |
Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.
Topics: Diagnosis, Differential; Female; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant; Lymphohi | 2005 |
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Topics: Amino Acid Sequence; Bacterial Proteins; Carrier Proteins; Cell Line; Chromosome Mapping; Conserved | 2006 |
[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system].
Topics: Brain; Child, Preschool; Electroencephalography; Epilepsy; Homocystinuria; Humans; Infant; Intellect | 2005 |
Gene discovery in methylmalonic aciduria and homocystinuria.
Topics: Carrier Proteins; Cell Line; Homocystinuria; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; | 2006 |
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Topics: Adolescent; Age of Onset; Carrier Proteins; Child; Ethnicity; Female; Fibroblasts; Heterozygote; Hom | 2006 |
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay.
Topics: Asian People; Carrier Proteins; Child, Preschool; DNA; Homocystinuria; Humans; Male; Metabolism, Inb | 2007 |
Clinical and biochemical studies on Chinese patients with methylmalonic aciduria.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Pre | 2006 |
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational An | 2007 |
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
Topics: Adult; Carrier Proteins; Female; Homocystinuria; Humans; Mental Disorders; Metabolism, Inborn Errors | 2007 |
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
Topics: Acute Kidney Injury; Betaine; Brain Diseases, Metabolic, Inborn; Carnitine; Carrier Proteins; Combin | 2007 |
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Child; Chil | 2008 |
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; C | 2008 |
Gene identification for the cblD defect of vitamin B12 metabolism.
Topics: Adolescent; Amino Acid Sequence; Child; Chromosomes, Human, Pair 2; DNA Mutational Analysis; Female; | 2008 |
Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
Topics: Adolescent; Child, Preschool; Female; Homocystinuria; Humans; Infant; Macular Degeneration; Male; Me | 2008 |
Methylmalonic aciduria with homocystinuria.
Topics: Homocystinuria; Humans; Hydroxocobalamin; Infant; Male; Malonates; Methylmalonic Acid | 1984 |
Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Child, Preschool; Cystathionine; Growth D | 1984 |
Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.
Topics: Adolescent; Child; Female; Homocystinuria; Humans; Hydroxocobalamin; Infant; Male; Malonates; Metabo | 1984 |
Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man.
Topics: Adolescent; Adult; Anemia, Megaloblastic; Bone Marrow; Deoxyuridine; Homocystinuria; Humans; Male; M | 1982 |
Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.
Topics: Anemia, Megaloblastic; Deoxyuridine; DNA; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobal | 1980 |
Epileptiform ocular movements with methylmalonic aciduria and homocystinuria.
Topics: Child; Child, Preschool; Cobamides; Epilepsy; Eye Movements; Eyelid Diseases; Female; Homocystinuria | 1980 |
Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria.
Topics: Amino Acids; Amniocentesis; Amniotic Fluid; Female; Gestational Age; Homocystinuria; Humans; Methylm | 1995 |
[Neonatal hemolytic and uremic syndrome, methylmalonic aciduria and homocystinuria due to intracellular vitamin B12 deficiency].
Topics: Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant; Infant, Newborn; Methylmalonic Acid; Vita | 1994 |
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Cobamides; Female; Homocystinuria; Humans | 1994 |
Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.
Topics: Adult; Child; Female; Homocystinuria; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin | 1996 |
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).
Topics: Adolescent; Age of Onset; Amino Acid Metabolism, Inborn Errors; Cause of Death; Child; Child, Presch | 1997 |
Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).
Topics: Child; Child, Preschool; Female; Growth; Homocystine; Homocystinuria; Humans; Hydroxocobalamin; Infa | 1998 |
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Cells, Cultured; Chorion; Chori | 1998 |
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Face; Homocystinuria; Humans; Male; Metabolism, In | 1999 |
Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family.
Topics: Aging; Child; Dementia; Electroencephalography; Female; Homocystinuria; Humans; Hydroxocobalamin; Le | 1999 |
Optic atrophy in association with cobalamin C (cblC) disease.
Topics: Age of Onset; Child, Preschool; Consanguinity; Female; Follow-Up Studies; Homocystine; Homocystinuri | 2000 |
Facial anomalies in combined methylmalonic aciduria and homocystinuria.
Topics: Child; Child, Preschool; Face; Homocystinuria; Humans; Metabolism, Inborn Errors; Methylmalonic Acid | 2000 |
EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria.
Topics: Electroencephalography; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newb | 2000 |
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.
Topics: Brain; Brain Edema; Demyelinating Diseases; Female; Gliosis; Homocystinuria; Humans; Infant; Infant, | 2001 |
Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Atrophy; Brain; Brain Diseases, Metabolic | 2001 |
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).
Topics: Adult; Carnitine; Diet, Protein-Restricted; Hematinics; Homocystinuria; Humans; Hydroxocobalamin; Ma | 2001 |
CblC/D defect combined with haemodynamically highly relevant VSD.
Topics: Female; Folic Acid; Heart Septal Defects, Ventricular; Homocysteine; Homocystinuria; Humans; Hydroxo | 2001 |
Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Vessel Prosthesis Implantation; Female; Heart Septal Def | 2001 |
The pathogenesis of hydrocephalus in inborn errors of the single carbon transfer pathway.
Topics: Cerebrospinal Fluid; Homocystinuria; Humans; Hydrocephalus; Infant; Methylenetetrahydrofolate Reduct | 2001 |
[Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy].
Topics: Administration, Oral; Age Factors; Betaine; Gastrointestinal Agents; Homocystinuria; Humans; Infant; | 2002 |
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.
Topics: Age of Onset; Brain; Electroencephalography; Epilepsy; Female; Follow-Up Studies; Homocysteine; Homo | 2002 |
Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acids; Coenzymes; Homocystinuria; H | 1979 |
Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.
Topics: Blood Vessels; Homocystinuria; Humans; Infant; Kidney; Lung; Male; Malonates; Metabolism, Inborn Err | 1979 |
[A case of cobalamin-dependent methylmalonic acidemia. Biochemical aspects, diagnosis and possible treatment (author's transl)].
Topics: Homocystinuria; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Malonates; M | 1978 |
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Breast Feeding; Diagnosis, Diffe | 1978 |
Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.
Topics: Amino Acids; Female; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Metabolism, Inborn E | 1992 |
Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria.
Topics: Eye; Eye Diseases; Female; Homocystinuria; Humans; Infant; Iris Diseases; Methylmalonic Acid; Pigmen | 1992 |
Homocystinuria, arteriosclerosis, methylmalonic aciduria, and methyltransferase deficiency: a key case revisited.
Topics: Arteriosclerosis; Homocysteine; Homocystinuria; Humans; Infant; Male; Methylmalonic Acid; Methyltran | 1992 |
Cobalamin C defect associated with hemolytic-uremic syndrome.
Topics: Female; Genes, Recessive; Hemolytic-Uremic Syndrome; Homocystinuria; Humans; Infant, Newborn; Metabo | 1992 |
Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria.
Topics: Child, Preschool; Diagnosis, Differential; Electroretinography; Female; Homocystinuria; Humans; Meth | 1992 |
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin.
Topics: Failure to Thrive; Female; Homocystinuria; Humans; Infant; Intestinal Absorption; Malonates; Methylm | 1990 |
Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.
Topics: Betaine; Child, Preschool; Female; Homocystinuria; Humans; Infant; Male; Malonates; Metabolism, Inbo | 1990 |
Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).
Topics: Heart Ventricles; Homocystinuria; Humans; Infant; Male; Malonates; Methylmalonic Acid; Postmortem Ch | 1990 |
A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Ane | 1986 |
Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Diagnosis, Differential; Female; H | 1988 |
Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease.
Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Fibroblasts; Homocystinuria; Humans; Infant, Newborn; Mal | 1988 |
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child, Preschool; Fe | 1988 |
Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child, Preschool; Diagnosis, Differential; Fe | 1986 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; | 1972 |
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Labora | 1972 |