homocysteine and Amino Acid Metabolism Disorders, Inborn

homocysteine has been researched along with Amino Acid Metabolism Disorders, Inborn in 129 studies

Research

Studies (129)

Timeframe	Studies, this research(%)	All Research%
pre-1990	38 (29.46)	18.7374
1990's	45 (34.88)	18.2507
2000's	14 (10.85)	29.6817
2010's	20 (15.50)	24.3611
2020's	12 (9.30)	2.80

Authors

Authors	Studies
Baker, PR; Berry, SA; Ketteridge, D; Kripps, KA; Larson, AA; McCandless, SE; Mirsky, DM; Nguyen, H; Rosenblatt, DS; Sremba, L; Van Hove, JLK; Watkins, D; Wright, EL	1
Elmaghrabi, A; Gotway, G; Wolf, MTF; Wood, WD	1
Chen, T; Gong, Z; Han, L; Liang, L; Ling, S; Wang, F; Xu, F; Yu, Y	1
Asahina, M; Imaizumi, K; Kawano, M; Nakashima, S; Sakamoto, M; Sato, M; Shirouchi, B; Tanaka, Y; Tashiro, K; Yamaguchi, C	1
Chen, Y; Du, M; Li, B; Lin, Y; Su, C; Wang, X; Wei, H; Wu, S; Yuan, S; Zhu, C	1
Attri, SV; Sahu, JK; Saini, AG; Saini, L; Sankhyan, N; Sharawat, IK; Singanamala, B	1
Hayashi, M; Inagaki, J; Inagaki, K; Okajima, T; Okawa, A; Tamura, T	1
Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y	1
Stipanuk, MH	1
Bouvier, D; Brailova, M; Minet-Quinard, R; Regnier, A; Sapin, V; Szymanowski, M	1
Chen, T; Gong, Z; Gu, X; Han, L; Liang, L; Qiu, W; Wang, L; Xiao, B; Xu, F; Ye, J; Zhang, H; Zhu, H	1
Baumgartner, MR; Forny, M; Froese, DS; Grimm, C; Kiessling, E; Kožich, V; Krijt, J; Nötzli, S; Samardzija, M; Todorova, V	1
Helander, H; Hinttala, R; Komulainen-Ebrahim, J; Rahikkala, E; Rantala, H; Risteli, L; Saastamoinen, E; Uusimaa, J	1
Chen, M; Wang, D; Yang, J; Yang, Q; Zhuang, J	1
Jin, Y; Kang, L; Li, D; Li, H; Liu, Y; Song, J; Wang, J; Yang, Y	1
Barić, I; Bártl, J; Baumgartner, MR; Ben-Omran, T; Blasco-Alonso, J; Blom, HJ; Bueno Delgado, MA; Carducci, C; Cassanello, M; Cerone, R; Chrastina, P; Couce, ML; Crushell, E; Delgado Pecellin, C; Dionisi-Vici, C; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; Garcia Jimenez, I; Gleich, F; Gonzalez Gallego, I; González-Irazabal, Y; Gouveia, S; Gramer, G; Huemer, M; Juan Fita, MJ; Karg, E; Keller, R; Klein, J; Kölker, S; Konstantopoulou, V; Kožich, V; la Marca, G; Leão Teles, E; Leuzzi, V; Lilliu, F; Lopez, RM; Lund, AM; Mayne, P; Meavilla, S; Moat, SJ; Morris, AA; Okun, JG; Pasquini, E; Pavlíková, M; Pedron-Giner, CC; Racz, GZ; Ribes, A; Ruiz Gomez, MA; Vilarinho, L; Yahyaoui, R; Zerjav Tansek, M; Zetterström, RH; Zeyda, M	1
Bertini, E; Boenzi, S; Di Giovamberardino, G; Dionisi-Vici, C; Martinelli, D; Pastore, A; Petrillo, S; Piemonte, F; Tozzi, G	1
Liu, YP; Yang, YL	1
Hagimoto, R; Hirabayashi, K; Ide, Y; Kinoshita, T; Koike, K; Mudd, SH; Shiohara, M; Sueki, A; Takeuchi, K; Yabuhara, A; Yamada, K	1
Benoist, JF; Cornec-Le Gall, E; De Parscau, L; Delmas, Y; Doucet, L; Fremeaux-Bacchi, V; Le Meur, Y; Ogier, H	1
Scherer, E; Schweinberger, BM; Schwieder, L; Sitta, A; Vargas, CR; Wyse, AT	1
Berry, SA; Bishop, L; Fair, AL; Gallant, N; Gavrilov, D; Hopkin, RJ; Leslie, ND; Matern, D; Oglesbee, D; Prada, CE; Raymond, K; Rinaldo, P; Rosenblatt, DS; Schimmenti, LA; Sellars, EA; Tortorelli, S; Wong, D	1
Kong, X; Liu, N; Zhao, Z; Zong, Y	1
Harding, CO; Karr, DJ; Ku, CA; Ng, JK; Pennesi, ME; Reznick, L; Weleber, RG	1
Barić, I	1
Francis, JH; Rao, L; Rosen, RB	1
Gao, X; Gu, X; Han, L; Qiu, W; Wang, F; Wang, Y; Yang, Y; Ye, J; Zhang, H; Zhang, Y	1
Rosenblatt, DS; Watkins, D	1
DiBello, PM; Hannibal, L; Jacobsen, DW; Miller, A; Rosenblatt, DS; Wang, S; Willard, B; Yu, M	1
Carrillo-Carrasco, N; Venditti, CP	1
Balasubramaniam, S; Bjursell, MK; Blom, HJ; Brandberg, G; Cayuela, JA; Engvall, ML; Falkenberg, M; Gustafsson, CM; Halldin, M; Jakobs, C; Lesko, N; Lundeberg, J; Smith, D; Struys, E; von Döbeln, U; Wedell, A	1
Bigler, B; Kook, PH; Lutz, S; Reusch, CE; Riond, B; Sewell, AC	1
Ding, Y; Huang, Y; Li, XY; Liu, YP; Ma, YY; Song, JQ; Wang, Q; Wu, TF; Yang, YL	1
CARSON, NA; CUSWORTH, DC; DENT, CE; FIELD, CM; NEILL, DW; WESTALL, RG	1
COFFEY, VP	1
EFRON, ML; MACCREADY, RA; MOSER, HW; YOUNG, D	1
BRENTON, DP; CUSWORTH, DC; GAULL, GE	2
WRIGHT, LD	1
EFRON, ML	1
Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C	1
Fulton, AB; Hansen, RM; Marsden, DL; Tsina, EK	1
Lawson-Yuen, A; Levy, HL	1
Hasegawa, Y; Jiang, Y; Qin, J; Song, J; Sun, F; Wu, X; Yamaguchi, S; Yang, Y; Zhang, Y	1
Coppus, AW; Egger, JI; Fekkes, D; Tuinier, S; van Duijn, CM; Verhoeven, WM	1
Dong, JH; Jiang, YW; Liu, P; Qin, J; Song, JQ; Wang, LF; Wu, XR; Yan, R; Yang, YL; Zhang, Y; Zhang, YH	1
Schneede, J; Ueland, PM	1
Bóveda, MD; Castiñeiras, DE; Corrales, FJ; Couce, ML; Fraga, JM; Mora, MI; Mudd, SH	1
Hansen, S; MacDougall, L; Perry, TL; Warrington, PD	1
Cooper, AJ	1
Boers, GH; Rauwerda, JA; Stehouwer, CD; Valk, J; van den Berg, M; van der Knaap, MS	1
Dudman, NP; Kuchel, PW; Lundberg, P; Wilcken, DE	1
Aiolfi, S; Confalonieri, M; Gandola, L; Ghio, L; Mauri, F; Parigi, P; Patrini, G; Scartabellati, A	1
Blom, HJ; Boers, GH; Demacker, PN; Hak-Lemmers, HL; Kleinveld, HA; Te Poele-Pothoff, MT; Trijbels, JM	1
Blom, HJ; Boers, GH; Franken, DG; Jakobs, C; Kluft, C; Rauwerda, JA; Stehouwert, CD; Van den Berg, M; Van Kamp, GJ	1
Blom, HJ; Boers, GH; Engbersen, AM; Franken, DG; Stevens, EM; Trijbels, FJ	1
Tuddenham, EG; Wright, SD	1
Aratani, Y; Kluckman, K; Maeda, N; Malinow, MR; Osada, J; Reddick, R; Watanabe, M	1
Blom, HJ; Boers, GH; Franken, DG; Trijbels, JM	1
Meuwissen, OJ; van der Griend, R	1
Blom, HJ; Boers, GH; Borm, GF; Eskes, TK; Steegers-Theunissen, RP; Thomas, CM; Trijbels, FJ; Wouters, MG	1
Rees, MM; Rodgers, GM	1
Kodama, H; Kurashige, T; Okada, T; Sugahara, K; Takechi, T; Wakiguchi, H	1
Blom, HJ; Boers, GH; Franken, DG; Novakova, IR; Verrips, A; Vreugdenhil, A	1
Blom, HJ; Boers, GH; den Heijer, M; Frosst, P; Kluijtmans, LA; Rozen, R; Stevens, EM; Trijbels, FJ; van den Heuvel, LP; van Oost, BA	1
Kang, SS	1
Loscalzo, J	1
Aull, S; Deecke, L; Lalouschek, W; Schnider, P; Uhl, F; Zeiler, K	1
Kang, SS; Wong, PW	1
Blom, HJ; Boers, GH; Cruysberg, JR; Franken, DG; Hamel, BC; Trijbels, FJ	1
Bausserman, L; Bostom, AG; Jacques, PF; Lapane, KL; Nadeau, MR; Rosenberg, IH; Selhub, J; Shemin, D; Sutherland, P; Tofler, G; Wilson, PW; Yoburn, D	1
Blom, HJ; Bos, GM; Brouwer, IA; den Heijer, M; Gerrits, WB	1
Adjalla, CE; Campeau, E; Christensen, B; Eydoux, P; Goyette, P; Gravel, RA; Leclerc, D; Rosenblatt, DS; Ross, M; Rozen, R	1
Cacoub, P; Gatel, A; Godeau, P; Piette, JC; Sbai, A	1
Engelbrecht, V; Huismann, J; Rassek, M; Wendel, U	1
Loscalzo, J; Upchurch, GR; Welch, GN	1
Fowler, B	2
Hayoz, D; Monnerat, C	1
Brönstrup, A; Pietrzik, K	1
Cattaneo, M	1
Artuch, R; Camacho, JA; Campistol, J; Cardo, E; Ferrer, I; Moyano, D; Pavia, C; Pineda, M; Vilaseca, MA	1
Loscalzo, J; Welch, GN	1
Carreras, LO; Falcón, CR	1
Blom, HJ	1
Becker, HM; Bräuer, B; Brieke, A; Dieterle, P; Eggemann, F; Panzere, C	1
Chadefaux-Vekemans, B; Garcia, MJ; Jakobs, C; Kamoun, P; Merinero, B; Pérez-Cerdá, C; Tonetti, C; Ugarte, M; Zittoun, J	1
Bottiglieri, T; Charles, HC; Gray, L; Hyland, K; Jaeken, J; Kahler, SG; Lazeyras, F; Van Hove, JL; Zeisel, SH	1
Cole, DE; Langman, LJ	1
Ferguson, SE; Smith, GN; Walker, MC	1
Dyerberg, J; Nexø, E; Osler, M; Rasmussen, K; Skovby, F; Stender, S	1
Beyler, C; Nassogne, MC; Saudubray, JM; Touati, G	1
Cook, JW; Malinow, MR; Orloff, SL; Yin, Q	1
Ardouin, P; Cartigny, B; Dhondt, JL; Farriaux, JP	1
McCully, KS	4
Brattström, L; Lindgren, A	1
Kang, SS; Malinow, MR; Wong, PW	1
Miller, JW; Selhub, J	1
Bock, HG; Grix, A; Horwitz, A; Kang, SS; Wong, PW	1
Clarke, R; Colwell, N; Graham, I; Keane, F; O'Briain, S; Robinson, K	1
Andria, G; Carrozzo, R; Corbo, L; Sartorio, R	1
Kang, SS; Kowalisyn, J; Strokosch, G; Wong, PW; Zhou, J	1
Lee, JW; Ting, A; Vidaver, GA	1
Century, B; Natelson, S; Vorkink, WP	1
Donahue, S; Gaull, G; Struman, JA	1
Hakami, N; Sagerson, RN; Scott, CR; Teng, CC	1
Coignet, J; Laurent, B	1
Beratis, NG; Fleisher, LD; Gaull, GE; Hirschhorn, K; Tallan, HH	1
Gaull, G; Schaffner, F; Sturman, JA	1
Hirayama, K; Ikegami, T; Kodama, H; Mizuhara, S	1
Chatagner, F	1
McCully, KS; Ragsdale, BD	1
Copeland, W; Kelly, S; Leikhim, E	1
Levy, H; Morrow, G; Mudd, SH	1
Hinds, KR; Mudd, SH; Uhlendorf, BW	1
Abeles, RH; Jennedy, JP; Levy, HL; Mudd, SH	1
Araki, S; Cowen, D; Rowland, LP; Thompson, HL; White, HH	2
Schimke, RN; Spiro, HR; Welch, JP	1
Hartstein, J; Lieberman, TW; Podos, SM	1
Hansen, S; MacDougall, L; Perry, TL	1
Dolman, CL; Dunn, HG; Perry, TL	1
Gaitonde, MK; Gaull, G	1

Reviews

35 review(s) available for homocysteine and Amino Acid Metabolism Disorders, Inborn

Article	Year
Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients. Brain & development, 2020, Volume: 42, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Craniocerebral Trauma; Female; Globus Pallidus; Homocysteine; Humans; Infant; Magnetic Resonance Imaging; Male; Metal Metabolism, Inborn Errors; Seizures; Sulfite Oxidase	2020
Metabolism of Sulfur-Containing Amino Acids: How the Body Copes with Excess Methionine, Cysteine, and Sulfide. The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cystathionine beta-Synthase; Cysteine; Glycine N-Methyltransferase; Homocysteine; Humans; Hydrogen Sulfide; Liver; Methionine; S-Adenosylmethionine; Serine; Sulfides; Sulfur; Thiosulfates	2020
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. Medicine, 2017, Volume: 96, Issue:43 Topics: Amino Acid Metabolism, Inborn Errors; Atypical Hemolytic Uremic Syndrome; Carrier Proteins; Child, Preschool; Female; Homocysteine; Humans; Kidney; Methylmalonic Acid; Mutation; Oxidoreductases; Treatment Outcome; Vitamin B 12; Vitamin B Complex	2017
[Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2013, Volume: 51, Issue:4 Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Betaine; Carrier Proteins; Child; China; DNA Mutational Analysis; Gas Chromatography-Mass Spectrometry; Genotype; Homocysteine; Humans; Hydroxocobalamin; Hyperhomocysteinemia; Infant; Methylmalonic Acid; Mutation; Oxidoreductases; Vitamin B 12	2013
Inherited disorders in the conversion of methionine to homocysteine. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:4 Topics: Adenosylhomocysteinase; Amino Acid Metabolism, Inborn Errors; Glycine N-Methyltransferase; Health Planning Guidelines; Homocysteine; Humans; Methionine; Methionine Adenosyltransferase; Models, Biological	2009
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1 Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Central Nervous System; Child; Child, Preschool; Eye Diseases; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Middle Aged; Oxidoreductases; Pregnancy; Vitamin B 12 Deficiency	2012
AMINOACIDURIA. The New England journal of medicine, 1965, May-27, Volume: 272 Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Cystinuria; Histidine; Homocysteine; Humans; Hydroxyproline; Kidney; Methionine; Proline; Renal Aminoacidurias	1965
The use of betaine in the treatment of elevated homocysteine. Molecular genetics and metabolism, 2006, Volume: 88, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Methionine; Methylation	2006
[Measurement of methylmalonic acid, homocysteine and methionine in cobalamin and folate deficiencies and homocysteinuria]. Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2008, Mar-13, Volume: 128, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Diagnosis, Differential; Folic Acid; Folic Acid Deficiency; Food, Fortified; Homocysteine; Humans; Infant; Infant, Newborn; Methionine; Methylmalonic Acid; Vitamin B 12 Deficiency	2008
Biochemistry of sulfur-containing amino acids. Annual review of biochemistry, 1983, Volume: 52 Topics: Adenosine; Amino Acid Metabolism, Inborn Errors; Animals; Cysteine; Deoxyadenosines; Homocysteine; Humans; Methionine; Oxidoreductases; Oxidoreductases Acting on Sulfur Group Donors; S-Adenosylmethionine; Structure-Activity Relationship; Sulfur; Sulfurtransferases; Thionucleosides; Thiosulfate Sulfurtransferase	1983
Hyperhomocysteinaemia; with reference to its neuroradiological aspects. Neuroradiology, 1995, Volume: 37, Issue:5 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic; Cerebral Angiography; Child; Demyelinating Diseases; Female; Homocysteine; Humans; Intracranial Arteriosclerosis; Magnetic Resonance Imaging; Male	1995
Myeloproliferative and metabolic causes. Bailliere's clinical haematology, 1994, Volume: 7, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Chronic Disease; Diabetes Complications; Diabetes Mellitus; Female; Hemoglobinopathies; Hemoglobinuria, Paroxysmal; Homocysteine; Humans; Inflammation; Male; Metabolic Diseases; Myeloproliferative Disorders; Neoplasms; Nephrotic Syndrome; Postpartum Period; Pre-Eclampsia; Pregnancy; Pregnancy Complications, Cardiovascular; Pregnancy Complications, Hematologic; Purpura, Thrombotic Thrombocytopenic; Thrombosis	1994
Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis. Thrombosis research, 1993, Sep-01, Volume: 71, Issue:5 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Blood Coagulation Factors; Blood Platelets; Child; Cystathionine beta-Synthase; Endothelium, Vascular; Fibrinolytic Agents; Folic Acid Deficiency; Homocysteine; Humans; Incidence; Male; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Penicillamine; Risk Factors; Thrombosis; Vascular Diseases; Vitamin B 12; Vitamin B 6 Deficiency; Vitamins	1993
Critical points for determining moderate hyperhomocyst(e)inaemia. European journal of clinical investigation, 1995, Volume: 25, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Female; Homocysteine; Humans; Male; Postmenopause; Pregnancy; Pregnancy Complications; Premenopause	1995
[Hyperhomocyst(e)inemia--an independent risk factor of stroke]. Fortschritte der Neurologie-Psychiatrie, 1996, Volume: 64, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Arterial Occlusive Diseases; Cerebrovascular Disorders; Coronary Disease; Homocysteine; Homocystine; Humans; Risk Factors	1996
Genetic and nongenetic factors for moderate hyperhomocyst(e)inemia. Atherosclerosis, 1996, Jan-26, Volume: 119, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine beta-Synthase; Genetic Predisposition to Disease; Genotype; Homocysteine; Humans; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Phenotype; Prevalence; Risk Factors; Vascular Diseases	1996
[Hyperhomocysteinemia, atherosclerosis and arterial and venous thrombosis]. Annales de medecine interne, 1996, Volume: 147, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arteriosclerosis; Heterozygote; Homocysteine; Homozygote; Humans; Thrombosis	1996
Homocysteine, oxidative stress, and vascular disease. Hospital practice (1995), 1997, Jun-15, Volume: 32, Issue:6 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Arteriosclerosis; Endothelium, Vascular; Homocysteine; Humans; Nutritional Status; Oxidative Stress; Platelet Adhesiveness; Risk Factors; Sex Factors; Thrombosis	1997
Disorders of homocysteine metabolism. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:2 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; 5,10-Methylenetetrahydrofolate Reductase (FADH2); Amino Acid Metabolism, Inborn Errors; Animals; Cystathionine beta-Synthase; Disease Models, Animal; Homocysteine; Humans; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Neural Tube Defects; Oxidoreductases	1997
[Homocysteine and venous thromboembolism]. Schweizerische medizinische Wochenschrift, 1997, Sep-06, Volume: 127, Issue:36 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Female; Folic Acid; Genetic Carrier Screening; Homocysteine; Humans; Male; Middle Aged; Risk; Thromboembolism; Thrombophlebitis	1997
Causes and consequences of hyperhomocyst(e)inemia. International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition, 1997, Volume: 67, Issue:5 Topics: Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Homocysteine; Humans; Prevalence	1997
Hyperhomocysteinemia: a risk factor for arterial and venous thrombotic disease. International journal of clinical & laboratory research, 1997, Volume: 27, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arteriosclerosis; Homocysteine; Humans; Risk Factors; Thrombophlebitis; Thrombosis; Vitamins	1997
Homocysteine and atherothrombosis. The New England journal of medicine, 1998, Apr-09, Volume: 338, Issue:15 Topics: Amino Acid Metabolism, Inborn Errors; Arteriosclerosis; Cardiovascular Diseases; Deficiency Diseases; Folic Acid; Homocysteine; Homocystine; Humans; Thrombosis; Vitamin B Complex	1998
[Moderate hyperhomocysteinemia: physiopathology of the endothelial lesion and its clinical implications]. Sangre, 1998, Volume: 43, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Avitaminosis; Cardiovascular Diseases; Cerebrovascular Disorders; Endothelium, Vascular; Homocysteine; Homocystinuria; Homozygote; Humans; Methionine; Myocardial Ischemia; Peripheral Vascular Diseases; Risk Factors; Thrombophlebitis; Vitamins	1998
Genetic defects of folate and cobalamin metabolism. European journal of pediatrics, 1998, Volume: 157 Suppl 2 Topics: Absorption; Amino Acid Metabolism, Inborn Errors; Animals; Coenzymes; Fibroblasts; Folic Acid; Homocysteine; Humans; Lysosomes; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Tetrahydrofolates; Transcobalamins; Vitamin B 12	1998
Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia. European journal of pediatrics, 1998, Volume: 157 Suppl 2 Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Amino Acid Metabolism, Inborn Errors; Arteriosclerosis; Heterozygote; Homocysteine; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Neural Tube Defects; Oxidoreductases; Thrombosis	1998
Homocysteine. Critical reviews in clinical laboratory sciences, 1999, Volume: 36, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Female; Homocysteine; Humans; Male; Neural Tube Defects; Vascular Diseases	1999
[Homocysteine and cardiovascular disease]. Ugeskrift for laeger, 2001, Mar-26, Volume: 163, Issue:13 Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Cardiovascular Diseases; Homocysteine; Humans; Myocardial Ischemia; Odds Ratio; Risk Factors	2001
[Hereditary metabolic causes of stroke and pseudo-stroke in adulthood]. La Revue de medecine interne, 2001, Volume: 22 Suppl 3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Fabry Disease; Homocysteine; Humans; Metabolism, Inborn Errors; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Stroke	2001
[Diagnosis and management of the aminoacidopathies (author's transl)]. Diabete & metabolisme, 1978, Volume: 4, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Citric Acid Cycle; Female; Genotype; Homocysteine; Humans; Lysine; Phenylalanine; Pregnancy; Prenatal Diagnosis	1978
Homocystine, atherosclerosis and thrombosis: implications for oral contraceptive users. The American journal of clinical nutrition, 1975, Volume: 28, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arteriosclerosis; Child; Contraceptives, Oral; Contraceptives, Oral, Hormonal; Embolism; Female; Glucose; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; Hyperlipidemias; Methionine; Thrombosis	1975
Hyperhomocysteinemia as a risk factor for stroke. Neurological research, 1992, Volume: 14, Issue:2 Suppl Topics: Amino Acid Metabolism, Inborn Errors; Cerebrovascular Disorders; Cystathionine beta-Synthase; Homocysteine; Humans; Models, Biological; Risk Factors	1992
Hyperhomocyst(e)inemia as a risk factor for occlusive vascular disease. Annual review of nutrition, 1992, Volume: 12 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arterial Occlusive Diseases; Homocysteine; Homocystine; Humans; Thromboembolism; Vascular Diseases	1992
The pathogenesis of homocysteinemia: interruption of the coordinate regulation by S-adenosylmethionine of the remethylation and transsulfuration of homocysteine. The American journal of clinical nutrition, 1992, Volume: 55, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; Homocysteine; Humans; Methionine; Methylation; S-Adenosylmethionine	1992
[Biochemical aspects of some congenital anomalies of the metabolism of sulfur amino acids]. Exposes annuels de biochimie medicale, 1967, Volume: 28 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Cysteine; Cystinuria; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; L-Serine Dehydratase; Methionine; Rats	1967

Trials

3 trial(s) available for homocysteine and Amino Acid Metabolism Disorders, Inborn

Article	Year
[Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2007, Volume: 45, Issue:7 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Anemia; Carnitine; Child; Child, Preschool; China; Female; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Male; Metabolic Diseases; Methylmalonic Acid; Urologic Diseases; Vitamin B 12; Vitamin B Complex; Young Adult	2007
Hyperhomocysteinaemia and endothelial dysfunction in young patients with peripheral arterial occlusive disease. European journal of clinical investigation, 1995, Volume: 25, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arterial Occlusive Diseases; Biomarkers; Blood Pressure; Cholesterol; Endothelium, Vascular; Fasting; Female; Folic Acid; Follow-Up Studies; Homocysteine; Humans; Male; Methionine; Middle Aged; Pyridoxine; Smoking; Thrombomodulin; Time Factors; Tissue Plasminogen Activator; von Willebrand Factor	1995
Effect of various regimens of vitamin B6 and folic acid on mild hyperhomocysteinaemia in vascular patients. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Folic Acid; Homocysteine; Humans; Middle Aged; Pyridoxine; Vascular Diseases	1994

Other Studies

91 other study(ies) available for homocysteine and Amino Acid Metabolism Disorders, Inborn

Article	Year
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. Journal of inherited metabolic disease, 2022, Volume: 45, Issue:2 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Amino Acid Metabolism, Inborn Errors; Early Diagnosis; Homocysteine; Humans; Metabolism, Inborn Errors; Methionine; Vitamin B 12	2022
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. Pediatric nephrology (Berlin, Germany), 2022, Volume: 37, Issue:6 Topics: Acute Kidney Injury; Amino Acid Metabolism, Inborn Errors; Atypical Hemolytic Uremic Syndrome; Female; Homocysteine; Humans; Hyperhomocysteinemia; Infant, Newborn; Kidney; Methylmalonic Acid; Oxidoreductases; Thrombotic Microangiopathies; Vitamin B 12; Vitamin B 12 Deficiency	2022
Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2022, Jun-25, Volume: 51, Issue:3 Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; China; Drug Resistant Epilepsy; Female; Genotype; Homocysteine; Host Cell Factor C1; Humans; Infant; Infant, Newborn; Male; Methylmalonic Acid; Vitamin B 12	2022
Mutation in Smek2 regulating hepatic glucose metabolism causes hypersarcosinemia and hyperhomocysteinemia in rats. Scientific reports, 2023, 02-21, Volume: 13, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Betaine; Glucose; Homocysteine; Hypercholesterolemia; Hyperhomocysteinemia; Liver; Mutation; Phosphoprotein Phosphatases; Rats; Rats, Inbred BN; Sarcosine; Sarcosine Dehydrogenase	2023
Serum vitamin B12 is a promising auxiliary index for the diagnosis of methylmalonic acidemia in children: A single center study in China. Clinica chimica acta; international journal of clinical chemistry, 2023, Jun-01, Volume: 546 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; China; Homocysteine; Humans; Vitamin B 12	2023
Novel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination. Bioscience, biotechnology, and biochemistry, 2020, Volume: 84, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Carbon-Sulfur Lyases; Carboxy-Lyases; Enzyme Assays; Escherichia coli; Glycine N-Methyltransferase; Homocysteine; Homocystinuria; Humans; Methionine; Plasmids; Pseudomonas putida; Spectrophotometry; Streptomyces	2020
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report. BMC medical genetics, 2020, 09-21, Volume: 21, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Base Sequence; Carnitine; Child, Preschool; DNA; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Hyperhomocysteinemia; Male; Methylmalonic Acid; Proteinuria	2020
[Remethylation disorders: about two cases]. Annales de biologie clinique, 2020, Dec-01, Volume: 78, Issue:6 Topics: Alcoholism; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Female; Folic Acid; Folic Acid Deficiency; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Metabolic Networks and Pathways; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Muscle Spasticity; Psychotic Disorders; Vitamin B 12	2020
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type. Orphanet journal of rare diseases, 2021, 03-10, Volume: 16, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Female; Homocysteine; Homocystinuria; Humans; Methylmalonic Acid; Oxidoreductases; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Retrospective Studies; Vitamin B 12	2021
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. Biochimica et biophysica acta. Molecular basis of disease, 2021, 10-01, Volume: 1867, Issue:10 Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Animals; Female; Homocysteine; Homocystinuria; Humans; Male; Methylmalonic Acid; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Mice, Transgenic; Middle Aged; Mutation; Oxidoreductases; Phenotype; Retina; Retinal Degeneration; Vitamin B 12; Young Adult	2021
Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis. Neuropediatrics, 2017, Volume: 48, Issue:6 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diagnosis, Differential; Drug Resistant Epilepsy; Early Diagnosis; Female; Homocysteine; Humans; Mutation	2017
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations. Journal of human genetics, 2019, Volume: 64, Issue:4 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; ATP-Binding Cassette Transporters; Child; Child, Preschool; China; Exome Sequencing; Female; Homocysteine; Humans; Infant; Infant, Newborn; Male; Mutation; Neonatal Screening; Tandem Mass Spectrometry; Vitamin B 12	2019
Newborn screening for homocystinurias: Recent recommendations versus current practice. Journal of inherited metabolic disease, 2019, Volume: 42, Issue:1 Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferase; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Muscle Spasticity; Neonatal Screening; Phenylalanine; Psychotic Disorders	2019
Glutathione metabolism in cobalamin deficiency type C (cblC). Journal of inherited metabolic disease, 2014, Volume: 37, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Case-Control Studies; Child; Child, Preschool; Cysteine; Disease Progression; Female; Glutathione; Homocysteine; Homocystinuria; Humans; Infant; Lymphocytes; Male; Oxidation-Reduction; Oxidative Stress; Oxidoreductases; Oxygen; Reactive Oxygen Species; Vitamin B 12; Vitamin B 12 Deficiency	2014
Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction. Gene, 2013, Nov-01, Volume: 530, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Glycine N-Methyltransferase; Heterozygote; Homocysteine; Humans; Male; Methionine; Methionine Adenosyltransferase; Mutation; Nervous System Diseases	2013
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. American journal of kidney diseases : the official journal of the National Kidney Foundation, 2014, Volume: 63, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Antibodies, Monoclonal, Humanized; Betaine; Biopsy; Carrier Proteins; Diagnosis, Differential; Drug Resistance; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Hypertension, Malignant; Immunologic Factors; Kidney; Kidney Function Tests; Leucovorin; Lipotropic Agents; Male; Methionine; Methylmalonic Acid; Mutation; Oxidoreductases; Recurrence; Renal Dialysis; Treatment Outcome; Vitamin B 12 Deficiency; Vitamin B Complex	2014
Development of an animal model for gestational hypermethioninemia in rat and its effect on brain Na⁺,K⁺-ATPase/Mg²⁺-ATPase activity and oxidative status of the offspring. Metabolic brain disease, 2014, Volume: 29, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Brain; Brain Chemistry; Ca(2+) Mg(2+)-ATPase; Catalase; Disease Models, Animal; Female; Glycine N-Methyltransferase; Homocysteine; Maternal-Fetal Exchange; Methionine; Nerve Tissue Proteins; Oxidation-Reduction; Oxidative Stress; Pregnancy; Pregnancy Complications; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Sulfhydryl Compounds; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances	2014
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genetics in medicine : official journal of the American College of Medical Genetics, 2016, Volume: 18, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Female; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Muscle Spasticity; Neonatal Screening; Psychotic Disorders; Treatment Outcome	2016
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC. BMC medical genetics, 2015, Jul-07, Volume: 16 Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Carrier Proteins; China; Computational Biology; Female; Fluorescence Polarization Immunoassay; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Molecular Sequence Data; Mutation, Missense; Oxidoreductases; Pedigree; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis; Sequence Analysis, DNA; Urinalysis; Vitamin B 12 Deficiency	2015
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. Ophthalmic genetics, 2016, Volume: 37, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Electroretinography; Female; Follow-Up Studies; Fumarates; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Maleates; Optic Nerve Diseases; Optical Imaging; Retinal Degeneration; Tomography, Optical Coherence; Vision Disorders; Visual Acuity; Vitamin B 12 Deficiency	2016
Methylmalonic aciduria and homocystinuria-associated maculopathy. Eye (London, England), 2010, Volume: 24, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Homocysteine; Homocystinuria; Humans; Macula Lutea; Male; Methylmalonic Acid; Retinal Degeneration	2010
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Carrier Proteins; Child, Preschool; China; Codon, Nonsense; DNA Mutational Analysis; Exons; Gas Chromatography-Mass Spectrometry; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Heterozygote; Homocysteine; Homocystinuria; Homozygote; Humans; Infant; Infant, Newborn; Methylmalonic Acid; Oxidoreductases; Phenotype; Vitamin B 12 Deficiency	2010
Inborn errors of cobalamin absorption and metabolism. American journal of medical genetics. Part C, Seminars in medical genetics, 2011, Feb-15, Volume: 157C, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Cobamides; Homocysteine; Humans; Hyperhomocysteinemia; Infant, Newborn; Malabsorption Syndromes; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Neonatal Screening; Proteinuria; Vitamin B 12; Vitamin B 12 Deficiency	2011
The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans. Molecular genetics and metabolism, 2011, Volume: 103, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Cell Line; Cells, Cultured; Fibroblasts; Folic Acid; Homocysteine; Humans; Hydroxocobalamin; Intracellular Space; Metabolic Networks and Pathways; Methylmalonic Acid; Mutation; Oxidoreductases; Phenotype; Proteome; Vimentin; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex	2011
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. American journal of human genetics, 2011, Oct-07, Volume: 89, Issue:4 Topics: Adenosine Kinase; Adult; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Child; Developmental Disabilities; Family Health; Female; Fibroblasts; Homocysteine; Humans; Liver Diseases; Male; Methionine; S-Adenosylhomocysteine; S-Adenosylmethionine	2011
Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds. American journal of veterinary research, 2012, Volume: 73, Issue:8 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biomarkers; Chromatography, Gas; Chromatography, High Pressure Liquid; Dog Diseases; Dogs; Female; Homocysteine; Luminescence; Male; Methylmalonic Acid; Reference Values; Species Specificity; Vitamin B 12; Vitamin B 12 Deficiency	2012
[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2012, Volume: 50, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; China; Female; Folic Acid; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Hyperhomocysteinemia; Infant; Infant, Newborn; Male; Methylmalonic Acid; Neonatal Screening; Retrospective Studies; Vitamin B 12	2012
Abstracts of the 4th International Conference on Homocysteine Metabolism. Basel, Switzerland, June 29-July 3, 2003. Journal of inherited metabolic disease, 2003, Volume: 26 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Homocysteine; Humans	2003
HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY. Archives of disease in childhood, 1963, Volume: 38 Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Genetics, Medical; Homocysteine; Homocystinuria; Humans; Intellectual Disability; Kidney; Northern Ireland; Renal Aminoacidurias; Urologic Diseases	1963
MENTAL RETARDATION AND THE INBORN ERRORS OF METABOLISM. Journal of the Irish Medical Association, 1964, Volume: 54 Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Fructose; Galactosemias; Histidine; Homocysteine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Renal Aminoacidurias; Vitamin B 6 Deficiency	1964
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER. The New England journal of medicine, 1964, Jun-25, Volume: 270 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulline; Glycine; Histidine; Homocysteine; Humans; Hydroxyproline; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Proline; Proteins; Renal Aminoacidurias; Urine	1964
HOMOCYSTINURIA. BIOCHEMICAL STUDIES OF TISSUES INCLUDING A COMPARISON WITH CYSTATHIONINURIA. Pediatrics, 1965, Volume: 35 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Chemistry; Chemistry Techniques, Analytical; Cystathionine gamma-Lyase; Geriatrics; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Hyperhomocysteinemia; Methionine; Oxidoreductases; Transferases; Urine	1965
AN INBORN ERROR OF METABOLISM ASSOCIATED WITH DEFICIENCY OF ENZYME CYSTATHIONINE SYNTHETASE LEADING TO HOMOCYSTINURIA. New York state journal of medicine, 1965, Feb-15, Volume: 65 Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Kidney; Metabolism, Inborn Errors; Renal Aminoacidurias	1965
HOMOCYSTINURIA: METABOLIC STUDIES ON 3 PATIENTS. The Journal of pediatrics, 1965, Volume: 67 Topics: Amino Acid Metabolism, Inborn Errors; Blood; Child; Genetics, Medical; Homocysteine; Homocystine; Homocystinuria; Humans; Intellectual Disability; Metabolism; Methionine; Neomycin; Urine	1965
Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Annals of neurology, 2005, Volume: 57, Issue:4 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Female; Glycine; Homocysteine; Homocystinuria; Humans; Male; Methionine; Methylmalonic Acid; Vitamin B 12	2005
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. Archives of ophthalmology (Chicago, Ill. : 1960), 2005, Volume: 123, Issue:8 Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Cobamides; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Macula Lutea; Methionine; Methylmalonic Acid; Retina; Retinal Degeneration; Vision, Ocular; Visual Acuity; Vitamin B 12 Deficiency	2005
Clinical and biochemical studies on Chinese patients with methylmalonic aciduria. Journal of child neurology, 2006, Volume: 21, Issue:12 Topics: Adolescent; Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Biomarkers; Child; Child, Preschool; China; Chronic Disease; Comorbidity; Disease Progression; Female; Homocysteine; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Predictive Value of Tests; Prognosis; Survival Rate	2006
Plasma amino acids and neopterin in healthy persons with Down's syndrome. Journal of neural transmission (Vienna, Austria : 1996), 2007, Volume: 114, Issue:8 Topics: Aged; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomarkers; Comorbidity; Dopamine; Down Syndrome; Female; Homocysteine; Homovanillic Acid; Humans; Immune System Diseases; Immunity, Cellular; Male; Methionine; Middle Aged; Neopterin; Taurine; Up-Regulation	2007
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme. Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2 Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Child Development; Child, Preschool; Early Diagnosis; Female; Genetic Predisposition to Disease; Homocysteine; Humans; Infant; Infant, Newborn; Male; Methionine; Methionine Adenosyltransferase; Mutation; Neonatal Screening; Pedigree; Phenotype; Predictive Value of Tests; Prognosis; Spain; Tandem Mass Spectrometry; Up-Regulation	2008
Sulfur-containing amino acids in the plasma and urine of homocystinurics. Clinica chimica acta; international journal of clinical chemistry, 1967, Volume: 15, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chromatography, Paper; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Iodoacetates; Methionine; Sulfoxides; Sulfur; Ultraviolet Rays	1967
1H NMR determination of urinary betaine in patients with premature vascular disease and mild homocysteinemia. Clinical chemistry, 1995, Volume: 41, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Creatinine; Glycine; Homocysteine; Humans; Hydrogen-Ion Concentration; Magnetic Resonance Spectroscopy; Male; Regression Analysis; Sarcosine; Vascular Diseases	1995
Heterozygosity for homocysteinuria: a detectable and reversible risk factor for pulmonary thromboembolism. Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace, 1995, Volume: 50, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Heparin; Heterozygote; Homocysteine; Humans; Pulmonary Embolism; Pyridoxine; Recurrence; Risk Factors; Thrombolytic Therapy; Thrombophlebitis; Urokinase-Type Plasminogen Activator	1995
Lipid peroxidation and susceptibility of low-density lipoprotein to in vitro oxidation in hyperhomocysteinaemia. European journal of clinical investigation, 1995, Volume: 25, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cholesterol; Cholesterol, LDL; Cohort Studies; Female; Homocysteine; Homozygote; Humans; Lipid Peroxidation; Lipoproteins, LDL; Male; Methionine; Oxidation-Reduction; Reference Values; Thiobarbituric Acid Reactive Substances; Vitamin E	1995
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. American journal of human genetics, 1995, Volume: 56, Issue:1 Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Adult; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Cystathionine beta-Synthase; Female; Fibroblasts; Homocysteine; Hot Temperature; Humans; Lymphocytes; Male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Oxidoreductases; Protein Denaturation; Risk Factors; Vascular Diseases	1995
Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia. Proceedings of the National Academy of Sciences of the United States of America, 1995, Feb-28, Volume: 92, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Base Sequence; Cloning, Molecular; Cystathionine beta-Synthase; Disease Models, Animal; Gene Expression; Heterozygote; Homocysteine; Homocystine; Homozygote; Liver; Mice; Mice, Knockout; Molecular Sequence Data; Oligodeoxyribonucleotides; Restriction Mapping; RNA, Messenger	1995
[Hyperhomocysteinemia as risk factor for premature atherosclerosis]. Nederlands tijdschrift voor geneeskunde, 1994, Feb-26, Volume: 138, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Arteriosclerosis; Homocysteine; Homozygote; Humans; Pyridoxine; Risk Factors	1994
Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. Fertility and sterility, 1993, Volume: 60, Issue:5 Topics: Abortion, Habitual; Adult; Amino Acid Metabolism, Inborn Errors; Case-Control Studies; Female; Homocysteine; Humans; Methionine; Middle Aged; Pregnancy; Pregnancy Trimester, First; Prevalence; Risk Factors	1993
Identification of new cystathionine mono-oxo acids, S-(3-oxo-3-carboxy-n-propyl) cysteine and S-(2-oxo-2-carboxyethyl) homocysteine, in the urine of a patient with cystathioninuria. Archives of biochemistry and biophysics, 1993, Volume: 305, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Cystathionine; Cysteine; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Keto Acids	1993
Familial cerebrovascular accidents due to concomitant hyperhomocysteinemia and protein C deficiency type 1. Stroke, 1993, Volume: 24, Issue:10 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Cerebrovascular Disorders; Female; Homocysteine; Humans; Ischemic Attack, Transient; Male; Protein C Deficiency; Risk Factors	1993
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. American journal of human genetics, 1996, Volume: 58, Issue:1 Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Cardiovascular Diseases; Confidence Intervals; Cystathionine beta-Synthase; DNA Primers; Genotype; Homocysteine; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Molecular Sequence Data; Oxidoreductases Acting on CH-NH Group Donors; Point Mutation; Polymerase Chain Reaction; Prevalence; Reference Values; Risk Factors	1996
The oxidant stress of hyperhomocyst(e)inemia. The Journal of clinical investigation, 1996, Jul-01, Volume: 98, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Homocysteine; Homocystine; Humans; Oxidative Stress	1996
Prevalence of familial mild hyperhomocysteinemia. Atherosclerosis, 1996, Aug-23, Volume: 125, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cardiovascular Diseases; Fasting; Female; Homocysteine; Humans; Male; Methionine; Middle Aged; Pedigree	1996
Hyperhomocysteinemia, hyperfibrinogenemia, and lipoprotein (a) excess in maintenance dialysis patients: a matched case-control study. Atherosclerosis, 1996, Aug-23, Volume: 125, Issue:1 Topics: Adult; Age Factors; Aged; Amino Acid Metabolism, Inborn Errors; Arteriosclerosis; Biomarkers; Blood Coagulation Disorders; Case-Control Studies; Epidemiologic Factors; Female; Fibrinogen; Homocysteine; Humans; Kidney Failure, Chronic; Lipoprotein(a); Male; Middle Aged; Renal Dialysis; Risk Factors; Sex Factors	1996
Variability of the methionine loading test: no effect of a low protein diet. Annals of clinical biochemistry, 1996, Volume: 33 ( Pt 6) Topics: Adult; Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Female; Homocysteine; Humans; Male; Methionine; Middle Aged	1996
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Human molecular genetics, 1996, Volume: 5, Issue:12 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 1; Cloning, Molecular; DNA, Complementary; Homocysteine; Humans; Molecular Sequence Data; Mutation; Sequence Alignment; Vitamin B 12	1996
MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. AJNR. American journal of neuroradiology, 1997, Volume: 18, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Brain; Brain Diseases, Metabolic; Energy Metabolism; Female; Follow-Up Studies; Homocysteine; Humans; Infant; Lipotropic Agents; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Methylenetetrahydrofolate Reductase (NADPH2); Nerve Fibers, Myelinated; Oxidoreductases Acting on CH-NH Group Donors; Treatment Outcome	1997
Selective screening for hyperhomocysteinemia in pediatric patients. Clinical chemistry, 1998, Volume: 44, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Anorexia Nervosa; Cardiovascular Diseases; Child; Child, Preschool; Cystathionine beta-Synthase; Diabetes Mellitus, Type 1; Environment; Homocysteine; Humans; Infant; Marfan Syndrome; Mass Screening; Reference Values; Renal Insufficiency; Risk Factors	1998
Disorders of homocysteine metabolism: from rare genetic defects to common risk factors. Proceedings of an international symposium. Fulda, Germany, 20-22 November 1996. European journal of pediatrics, 1998, Volume: 157 Suppl 2 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Homocysteine; Homocystinuria; Humans	1998
[A young patient with multiple arterial occlusions]. Medizinische Klinik (Munich, Germany : 1983), 1998, May-15, Volume: 93, Issue:5 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arterial Occlusive Diseases; Contraceptives, Oral, Combined; Female; Homocysteine; Humans; Ileum; Ischemia; Leg; Mesenteric Artery, Superior; Mesenteric Vascular Occlusion; Risk Factors; Smoking	1998
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. Prenatal diagnosis, 1998, Volume: 18, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Cells, Cultured; Chorion; Chorionic Villi Sampling; Cobamides; Female; Gestational Age; Homocysteine; Homocystinuria; Humans; Male; Methylmalonic Acid; Pregnancy; Propionates; Tetrahydrofolates; Vitamin B 12	1998
One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:8 Topics: Amino Acid Metabolism, Inborn Errors; Benzoic Acid; Brain Diseases; Choline; Coma; Female; Glycine; Homocysteine; Humans; Infant; Infant, Newborn; Male; Methionine; Methylation; Phosphatidylcholines; S-Adenosylmethionine; Seizures; Serine; Tetrahydrofolates	1998
Maternal plasma homocysteine levels in women with preterm premature rupture of membranes. Medical hypotheses, 2001, Volume: 56, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Collagen; Female; Fetal Membranes, Premature Rupture; Homocysteine; Humans; Pregnancy	2001
Hyperhomocyst(e)inemia induces accelerated transplant vascular sclerosis in syngeneic and allogeneic rat cardiac transplants. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2002, Volume: 2, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Creatinine; Cystine; Graft Rejection; Graft Survival; Heart Transplantation; Homocysteine; Hyperhomocysteinemia; Male; Postoperative Complications; Rats; Rats, Inbred F344; Rats, Inbred Lew; Sclerosis; Time Factors; Transplantation, Heterotopic; Transplantation, Homologous; Transplantation, Isogeneic; Vascular Diseases	2002
Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations. American journal of human genetics, 1991, Volume: 48, Issue:3 Topics: Adolescent; Adult; Alleles; Amino Acid Metabolism, Inborn Errors; Enzyme Activation; Female; Folic Acid; Heterozygote; Homocysteine; Hot Temperature; Humans; Infant, Newborn; Lymphocytes; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Oxidoreductases Acting on CH-NH Group Donors; Pedigree; Substrate Specificity; Vitamin B 12	1991
Hyperhomocysteinaemia and multiple aneurysms. Postgraduate medical journal, 1991, Volume: 67, Issue:784 Topics: Amino Acid Metabolism, Inborn Errors; Aneurysm; Femoral Artery; Heterozygote; Homocysteine; Humans; Iliac Artery; Male; Middle Aged; Popliteal Artery	1991
Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Blood Proteins; Cystathionine beta-Synthase; Female; Genetic Carrier Screening; Homocysteine; Homocystine; Homozygote; Humans; Hydro-Lyases; Male; Protein Binding; Reference Values	1986
Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. American journal of human genetics, 1988, Volume: 43, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Enzyme Stability; Female; Genetic Variation; Homocysteine; Hot Temperature; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Oxidoreductases Acting on CH-NH Group Donors	1988
Lysolecithin-induced Ca2+ uptake by pigeon red cells. Life sciences, 1986, Mar-17, Volume: 38, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Calcium; Calcium Radioisotopes; Columbidae; Erythrocyte Membrane; Erythrocytes; Homocysteine; Kinetics; Lysophosphatidylcholines; Sodium	1986
Importance of homocysteine-induced abnormalities of proteoglycan structure in arteriosclerosis. The American journal of pathology, 1970, Volume: 59, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arteriosclerosis; Carbon Isotopes; Chemical Phenomena; Chemistry; Child; Chromatography; Culture Techniques; Cytoplasmic Granules; Female; Glycoproteins; Glycosaminoglycans; Homocysteine; Humans; Hydroxyproline; L-Serine Dehydratase; Proline; Skin	1970
Thin-layer chromatographic screening of amino acids in plasma and urine of newborns. Clinical chemistry, 1974, Volume: 20, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Blood Proteins; Chromatography, Thin Layer; Female; Glycine; Homocysteine; Humans; Indicators and Reagents; Infant, Newborn; Infant, Premature; Lysine; Methionine; Phenylalanine; Pregnancy; Proteinuria; Tyrosine; Ultrafiltration	1974
Arteriosclerosis due to homocyst (e) inemia. Failure to reproduce the model in weanling rabbits. The American journal of pathology, 1974, Volume: 77, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arteries; Arteriosclerosis; Brain; Disease Models, Animal; Homocysteine; Injections, Intraperitoneal; Injections, Subcutaneous; Kidney; Lung; Myocardium; Rabbits	1974
Hereditary transcobalamin II deficiency: the role of transcobalamin II in vitamin B 12 -mediated reactions. The Journal of pediatrics, 1972, Volume: 81, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Cystathionine; DNA; Hematopoietic System; Homocysteine; Humans; Infant; Infant, Newborn; Isomerases; Leukocytes; Malonates; Methionine; Methyltransferases; Oxidation-Reduction; Propionates; Succinates; Vitamin B 12; Vitamin B 12 Deficiency	1972
[Cystathionuria and defective enzyme regulation]. Clinica chimica acta; international journal of clinical chemistry, 1973, Jan-24, Volume: 43, Issue:2 Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Paper; Cystathionine; Cysteine; Electrophoresis, Paper; Female; Homocysteine; Homocystine; Homoserine; Humans; Hydro-Lyases; Hydrocortisone; Liver; Lyases; Methionine; Pyridoxine; Sulfur	1973
Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts. Biochemical and biophysical research communications, 1973, Nov-01, Volume: 55, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Biopsy; Cells, Cultured; Fibroblasts; Heterozygote; Homocysteine; Homozygote; Humans; Hydro-Lyases; Hydrogen-Ion Concentration; Kinetics; Pyridoxal Phosphate; Serine; Skin	1973
Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies. The Journal of pediatrics, 1974, Volume: 84, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopsy, Needle; Child; Child, Preschool; Cystathionine; Female; Heterozygote; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Liver; Male; Methionine; Mitochondria, Liver; Pyridoxine; Transferases; Transketolase	1974
Effect of pyridoxine treatment of a cystathioninuric patient on the urinary excretion of some unusual sulfur-containing amino acids. Clinica chimica acta; international journal of clinical chemistry, 1974, Feb-28, Volume: 51, Issue:1 Topics: Acetamides; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Autoanalysis; Chromatography, Ion Exchange; Cystathionine; Cysteine; Electrophoresis, Paper; Female; Homocysteine; Homocystine; Humans; Pyridoxine; Time Factors	1974
Homocysteinemia and arteriosclerosis. American heart journal, 1972, Volume: 83, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Arteriosclerosis; Cystathionine; Homocysteine	1972
Production of arteriosclerosis by homocysteinemia. The American journal of pathology, 1970, Volume: 61, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arteries; Arteriosclerosis; Diet; Homocysteine; Microscopy, Electron; Rabbits	1970
Amino acid excretion patterns in the offspring of a 'doubly-heterozygous' cystine stone former. Experientia, 1970, Dec-15, Volume: 26, Issue:12 Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cysteine; Cystinosis; Cystinuria; Female; Ferrocyanides; Heterozygote; Homocysteine; Humans; Lysine; Molecular Biology; Ornithine	1970
Deranged B 12 metabolism: effects on sulfur amino acid metabolism. Biochemical medicine, 1970, Volume: 4, Issue:3 Topics: Adenosine Triphosphate; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Betaine; Brain Chemistry; Carbon Isotopes; Child, Preschool; Folic Acid; Homocysteine; Humans; Infant; Infant, Newborn; Isomerases; Kidney; Liver; Male; Malonates; Methionine; Methyltransferases; Transferases; Vitamin B 12	1970
Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture. Biochemical medicine, 1970, Volume: 4, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Carbon Dioxide; Carbon Isotopes; Coenzyme A; Fibroblasts; Folic Acid; Glutamates; Homocysteine; Humans; Hydroxocobalamin; Isomerases; L-Serine Dehydratase; Male; Malonates; Methionine; Methyltransferases; Propionates; Skin; Vitamin B 12	1970
A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochemical and biophysical research communications, 1969, Apr-10, Volume: 35, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Aminobutyrates; Brain; Homocysteine; Homocystine; Homocystinuria; Humans; Infant; Kidney; Liver; Male; Malonates; Metabolism, Inborn Errors; Methionine; Sulfides; Transferases; Vitamin B 12	1969
Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. The American journal of pathology, 1969, Volume: 56, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Arteries; Arteriosclerosis; Child; Diet; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Isomerases; Kidney; Ligases; Male; Malonates; Methionine; Vitamin B 12	1969
Homocystinuria. Transactions of the American Neurological Association, 1964, Volume: 89 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinuria; Homocysteine; Humans; Infant; Methionine	1964
Homocystinuria due to cystathionine synthase deficiency. Annals of internal medicine, 1965, Volume: 63, Issue:6 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; In Vitro Techniques; Intellectual Disability; Liver; Methionine	1965
Schizophrenia in a patient with a defect in methionine metabolism. The Journal of nervous and mental disease, 1965, Volume: 141, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Female; Homocysteine; Humans; Intellectual Disability; Methionine; Schizophrenia	1965
Homocystinuria. Archives of neurology, 1965, Volume: 13, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Child; Child, Preschool; Female; Homocysteine; Homocystine; Homocystinuria; Humans; Hydro-Lyases; In Vitro Techniques; Intellectual Disability; Intracranial Embolism and Thrombosis; Lens, Crystalline; Male; Methionine; Seizures	1965
Acute glaucoma, ectopia lentis and homocystinuria. American journal of ophthalmology, 1966, Volume: 61, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Eye Diseases; Female; Glaucoma; Homocysteine; Humans; Lens, Crystalline; Urine	1966
Homolanthionine excretion in homocystinuria. Science (New York, N.Y.), 1966, Jun-24, Volume: 152, Issue:3730 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Chemistry, Physical; Child; Child, Preschool; Chromatography; Chromatography, Paper; Homocysteine; Humans; In Vitro Techniques; Urine	1966
Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis. Neurology, 1966, Volume: 16, Issue:4 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Blood; Blood Coagulation Disorders; Brain; Child; Child, Preschool; Cystine; Electroencephalography; Female; Homocysteine; Homocystine; Homocystinuria; Humans; In Vitro Techniques; Infant; Intellectual Disability; Intracranial Embolism and Thrombosis; Kidney Diseases; Male; Methionine; Taurine; Urine	1966
Homocystinuria: an observation on the inheritance of cystathionine synthase deficiency. Journal of medical genetics, 1966, Volume: 3, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Cystine; Homocysteine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; Lens, Crystalline; Male; Methionine; Middle Aged; Sulfur Isotopes	1966