homocysteine and Metabolism, Inborn Errors

homocysteine has been researched along with Metabolism, Inborn Errors in 54 studies

Research

Studies (54)

Timeframe	Studies, this research(%)	All Research%
pre-1990	12 (22.22)	18.7374
1990's	10 (18.52)	18.2507
2000's	15 (27.78)	29.6817
2010's	12 (22.22)	24.3611
2020's	5 (9.26)	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
Gambello, MJ; Gonzalez, A; Kožich, V; Li, H; Smith, GH; Sokolová, J	1
Bross, P; Carlsen, J; Dipace, G; Gregersen, N; Mosegaard, S; Olsen, RKJ	1
Kožich, V; Stabler, S	1
Guéant, JL; Jeannesson, E; Levy, J; Oussalah, A; Rodriguez-Guéant, RM; Wahl, D; Ziuly, S	1
Kruger, WD	1
Lichter-Konecki, U; Sklirou, E	1
Ahmadi, KR; Andrew, T; Dalmia, A; Dib, MJ; Harrington, DJ; Maude, H; Sobczyńska-Malefora, A	1
Barhoumi, A; Daher, RT; Karam, PE; Majdalani, MN; Yazbeck, N	1
Aydin, A; Cansever, S; Kiykim, E; Soyucen, E; Yalcinkaya, C; Zeybek, CA; Zubarioglu, T	1
Field, MS; Kamynina, E; Stover, PJ	1
Augoustides-Savvopoulou, P; Barić, I; Blom, HJ; Chien, YH; Dobbelaere, D; Grünert, SC; Opladen, T; Petković Ramadža, D; Rakić, B; Staufner, C; Wedell, A	1
Abdenur, J; Baumgart, S; Bernstein, JA; Day-Salvatore, DL; Gavrilov, DK; Lichter-Konecki, U; Lim, JS; Lorey, F; Matern, D; Oglesbee, D; Raymond, K; Rinaldo, P; Schimmenti, L; Tortorelli, S; Turgeon, CT	1
Anastasio, N; Fedosov, S; Gallagher, RC; Hannibal, L; Jacobsen, DW; Lai, SC; Nakayama, Y; Quadros, EV; Rosenblatt, DS; Sequeira, JM; Wang, S; Watkins, D; Wright, E	1
Blom, HJ; Fowler, B; Kožich, V	1
Rosenblatt, DS; Watkins, D	1
Dalluge, JJ	1
Echenne, B; Giraudier, S; Landrieu, P; Saudubray, JM; Tonetti, C; Zittoun, J	1
Erbe, RW; Salis, RJ	1
Hogan, K; Laxova, R; Rosenblatt, DS; Selzer, RR	1
WRIGHT, LD	1
Benoist, JF; Bolgert, F; Demeret, S; Gervais, D; Ogier de Baulny, H; Pierrot-Deseilligny, C; Roze, E; Said, G; Zittoun, J	1
Carmel, R; Green, R; Rosenblatt, DS; Watkins, D	1
Fowler, B; Koch, HG; Lagler, F; Linnebank, M; Muntau, AC; Olgemöller, B; Röschinger, W	1
Brosnan, JT; Brosnan, ME; da Silva, R; Edison, EE	1
Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ	1
Lonn, E	1
Allen, RH; Lindenbaum, J; Stabler, SP	1
de Caterina, R; Zampolli, A	1
Bakker, RC; Brandjes, DP	1
Rosenberg, IH; Rosenberg, LE	1
Gérard, M; Ogier de Baulny, H; Saudubray, JM; Zittoun, J	1
Arn, PH; Driscoll, DJ; Rosenblatt, DS; Williams, CA; Zori, RT	1
Eskes, TK	1
Boer, J; Kolbach, DN	1
Assmann, G; Cullen, P	1
Bagnoli, F; Bellieni, CV; Buonocore, G; Cioni, M; De Felice, C; Farnetani, M; Ferrari, F; Gatti, MG	1
Fowler, B	1
Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK	1
Beyler, C; Nassogne, MC; Saudubray, JM; Touati, G	1
Mudd, SH	1
Garovic-Kocic, V; Rosenblatt, DS	1
Skovby, F	1
Freeman, JM; Mudd, SH	1
Sviatkina, OB; Vel'tishchev, IuE	1
Rosenberg, LE	1
Dillon, MJ; England, JM; Gompertz, D; Goodey, PA; Grant, DB; Hussein, HA; Linnell, JC; Matthews, DM; Mudd, SH; Newns, GH; Seakins, JW; Uhlendorf, BW; Wise, IJ	1
Mahoney, MJ; Rosenberg, LE	1
Fontaine, G	1
Mahoney, MJ; Mudd, SH; Rosenberg, LE; Uhlendorf, BW	1
Abeles, RH; Jennedy, JP; Levy, HL; Mudd, SH	1

Reviews

22 review(s) available for homocysteine and Metabolism, Inborn Errors

Article	Year
Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism. International journal of molecular sciences, 2020, May-28, Volume: 21, Issue:11 Topics: Acyl-CoA Dehydrogenases; Aging; Animals; Diet; Electron Transport; Energy Metabolism; Fatty Acids; Female; Flavin Mononucleotide; Flavin-Adenine Dinucleotide; Folic Acid; Genetic Variation; Homocysteine; Humans; Immune System; Metabolism, Inborn Errors; Mitochondria; Mutation; Phenotype; Pregnancy; Protein Folding; Riboflavin; Riboflavin Deficiency	2020
Lessons Learned from Inherited Metabolic Disorders of Sulfur-Containing Amino Acids Metabolism. The Journal of nutrition, 2020, 10-01, Volume: 150, Issue:Suppl 1 Topics: Amino Acids, Sulfur; Animals; Brain Diseases; Cysteine; Glutathione; Homocysteine; Homocystinuria; Humans; Hydrogen Sulfide; Liver; Metabolic Diseases; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Methylation; S-Adenosylmethionine; Sulfites; Sulfur; Sulfur Compounds	2020
Cystathionine β-synthase deficiency: Of mice and men. Molecular genetics and metabolism, 2017, Volume: 121, Issue:3 Topics: Animals; Animals, Newborn; Cystathionine beta-Synthase; Disease Models, Animal; Genotype; Homocysteine; Homocystinuria; Humans; Male; Metabolism, Inborn Errors; Methionine; Mice; Mutation; Phenotype; Pyridoxine	2017
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine. Pediatric clinics of North America, 2018, Volume: 65, Issue:2 Topics: Cognitive Dysfunction; Creatine; Diagnosis, Differential; Homocysteine; Humans; Metabolism, Inborn Errors; Methionine; Phenylalanine; Purines; Pyrimidines	2018
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:1 Topics: Consensus; Homocysteine; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Methylation; Neonatal Screening; S-Adenosylhomocysteine; S-Adenosylmethionine	2017
Mass spectrometry: an emerging alternative to traditional methods for measurement of diagnostic proteins, peptides and amino acids. Current protein & peptide science, 2002, Volume: 3, Issue:2 Topics: Amino Acids; Hemoglobins; Homocysteine; Humans; Infant, Newborn; Mass Screening; Mass Spectrometry; Metabolism, Inborn Errors; Peptides; Prealbumin; Proteins; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Transferrin	2002
Update on cobalamin, folate, and homocysteine. Hematology. American Society of Hematology. Education Program, 2003 Topics: Folic Acid; Homocysteine; Humans; Hyperhomocysteinemia; Metabolism, Inborn Errors; Polymorphism, Genetic; Vascular Diseases; Vitamin B 12; Vitamin B 12 Deficiency	2003
New insights into creatine function and synthesis. Advances in enzyme regulation, 2007, Volume: 47 Topics: Animals; Creatine; Energy Metabolism; Homocysteine; Humans; Metabolism, Inborn Errors	2007
Homocysteine in the prevention of ischemic heart disease, stroke and venous thromboembolism: therapeutic target or just another distraction? Current opinion in hematology, 2007, Volume: 14, Issue:5 Topics: Atherosclerosis; Homocysteine; Humans; Meta-Analysis as Topic; Metabolism, Inborn Errors; Myocardial Ischemia; Randomized Controlled Trials as Topic; Stroke; Thromboembolism	2007
[Hyperhomocysteinemia and vascular disease]. Giornale italiano di cardiologia, 1996, Volume: 26, Issue:7 Topics: Adult; Aged; Arteriosclerosis; Homocysteine; Humans; Metabolism, Inborn Errors; Middle Aged	1996
Hyperhomocysteinaemia and associated disease. Pharmacy world & science : PWS, 1997, Volume: 19, Issue:3 Topics: 5,10-Methylenetetrahydrofolate Reductase (FADH2); Arteriosclerosis; Female; Homocysteine; Homocystinuria; Homozygote; Humans; Lyases; Metabolism, Inborn Errors; Methylenetetrahydrofolate Reductase (NADPH2); Neural Tube Defects; Oxidoreductases; Pregnancy; Pregnancy Complications; Thrombophlebitis	1997
The implications of genetic diversity for nutrient requirements: the case of folate. Nutrition reviews, 1998, Volume: 56, Issue:2 Pt 2 Topics: Animals; Folic Acid; Genetic Variation; Homocysteine; Humans; Metabolism, Inborn Errors; Molecular Structure; Nutritional Requirements; Phenotype	1998
Remethylation defects: guidelines for clinical diagnosis and treatment. European journal of pediatrics, 1998, Volume: 157 Suppl 2 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Betaine; Child, Preschool; Folic Acid; Homocysteine; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Metabolism, Inborn Errors; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Oxidoreductases Acting on CH-NH Group Donors; Practice Guidelines as Topic; Vitamin B 12	1998
Open or closed? A world of difference: a history of homocysteine research. Nutrition reviews, 1998, Volume: 56, Issue:8 Topics: Animals; Female; Folic Acid; Homocysteine; Humans; Metabolism, Inborn Errors; Neural Tube Defects; Oxidoreductases Acting on CH-NH Group Donors; Pregnancy; Vascular Diseases	1998
The folate cycle and disease in humans. Kidney international. Supplement, 2001, Volume: 78 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; 5,10-Methylenetetrahydrofolate Reductase (FADH2); Aminohydrolases; Biological Transport, Active; Folic Acid; Formate-Tetrahydrofolate Ligase; Histidine; Homeostasis; Homocysteine; Humans; Intestinal Mucosa; Kidney Diseases; Metabolism, Inborn Errors; Methylenetetrahydrofolate Dehydrogenase (NADP); Methylenetetrahydrofolate Reductase (NADPH2); Multienzyme Complexes; Oxidoreductases; Polyglutamic Acid; Purine Nucleotides; Serine; Tetrahydrofolates	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
Diseases of sulphur metabolism: implications for the methionine-homocysteine cycle, and vitamin responsiveness. Ciba Foundation symposium, 1979, Issue:72 Topics: Adolescent; Cystathionine beta-Synthase; Homocysteine; Homocystinuria; Humans; Metabolism, Inborn Errors; Methionine; Methylation; Pyridoxine; Sulfur	1979
Inborn errors of metabolism causing homocysteinemia and related vascular involvement. Haemostasis, 1989, Volume: 19 Suppl 1 Topics: Homocysteine; Humans; Metabolism, Inborn Errors; Vascular Diseases	1989
Homocysteine, folic acid, and the prevention of vascular disease. Nutrition reviews, 1989, Volume: 47, Issue:8 Topics: Arterial Occlusive Diseases; Arteriosclerosis; Folic Acid; Folic Acid Deficiency; Homocysteine; Humans; Metabolism, Inborn Errors; Vascular Diseases; Vitamin B 12; Vitamin B 12 Deficiency	1989
[Hereditary anomalies of methionine metabolism in children]. Pediatriia, 1972, Volume: 51, Issue:4 Topics: Age Factors; Child; Flatfoot; Folic Acid; Homocysteine; Homocystine; Homocystinuria; Humans; Intellectual Disability; Kyphosis; Marfan Syndrome; Metabolism, Inborn Errors; Methionine; Scoliosis	1972
Vitamin-responsive inherited diseases affecting the nervous system. Research publications - Association for Research in Nervous and Mental Disease, 1974, Volume: 53 Topics: Coenzymes; Genotype; Homocysteine; Humans; Metabolism, Inborn Errors; Methionine; Molecular Biology; Mutation; Neurologic Manifestations; Phenotype; Pyridoxine; Vitamin B 12; Vitamins	1974
Inherited defects of B12 metabolism. The American journal of medicine, 1970, Volume: 48, Issue:5 Topics: Amino Acids; Animals; Coenzymes; Homocysteine; Humans; Malonates; Metabolism, Inborn Errors; Propionates; Vitamin B 12; Vitamin B 12 Deficiency	1970

Trials

1 trial(s) available for homocysteine and Metabolism, Inborn Errors

Article	Year
Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. Archives of neurology, 2003, Volume: 60, Issue:10 Topics: Adolescent; Adult; Brain; Cobamides; Female; Fibroblasts; Homocysteine; Humans; Mental Disorders; Metabolism, Inborn Errors; Methylmalonic Acid; Nervous System Diseases; Sural Nerve; Vitamin B 12	2003

Other Studies

31 other study(ies) available for homocysteine and Metabolism, Inborn Errors

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
Elevated homocysteine levels: What inborn errors of metabolism might we be missing? American journal of medical genetics. Part A, 2023, Volume: 191, Issue:1 Topics: Adult; Female; Folic Acid; Homocysteine; Homocystinuria; Humans; Hyperhomocysteinemia; Metabolism, Inborn Errors; Retrospective Studies; Vitamin B 12	2023
Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients. The American journal of clinical nutrition, 2021, 05-08, Volume: 113, Issue:5 Topics: Adult; Cardiovascular Diseases; Child, Preschool; Cross-Sectional Studies; Female; Folic Acid; Folic Acid Deficiency; Homocysteine; Humans; Hyperhomocysteinemia; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Middle Aged; Retrospective Studies; Vitamin B 12	2021
A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B The Journal of nutritional biochemistry, 2019, Volume: 70 Topics: Adult; Aged; Aged, 80 and over; Alkyl and Aryl Transferases; Biomarkers; Energy Metabolism; Female; Ferredoxin-NADP Reductase; Genome-Wide Association Study; Homocysteine; Humans; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Middle Aged; Mitochondria; Molecular Epidemiology; Polymorphism, Single Nucleotide; Thiolester Hydrolases; Transcobalamins; Valine; Vitamin B 12	2019
Cardiovascular disease biomarkers in patients with inborn errors of protein metabolism: a pilot study. Journal of human nutrition and dietetics : the official journal of the British Dietetic Association, 2015, Volume: 28, Issue:4 Topics: Adolescent; Biomarkers; Cardiovascular Diseases; Child; Child, Preschool; Cholesterol; Cross-Sectional Studies; Dietary Proteins; Female; Homocysteine; Humans; Infant; Lipoproteins; Male; Metabolism, Inborn Errors; Nutrition Assessment; Pilot Projects; Risk Factors; Triglycerides	2015
Inherited metabolic disorders in Turkish patients with autism spectrum disorders. Autism research : official journal of the International Society for Autism Research, 2016, Volume: 9, Issue:2 Topics: Adolescent; Adult; Amino Acids; Ammonia; Autism Spectrum Disorder; Blood Gas Analysis; Carnitine; Child; Child, Preschool; Comorbidity; Female; Glycosaminoglycans; Homocysteine; Humans; Infant; Lactic Acid; Male; Metabolism, Inborn Errors; Prevalence; Retrospective Studies; Tandem Mass Spectrometry; Turkey; Young Adult	2016
MTHFD1 regulates nuclear de novo thymidylate biosynthesis and genome stability. Biochimie, 2016, Volume: 126 Topics: Animals; Congenital Abnormalities; Folic Acid; Genomic Instability; Homocysteine; Humans; Immunologic Deficiency Syndromes; Metabolism, Inborn Errors; Methylenetetrahydrofolate Dehydrogenase (NADP); Mice; Minor Histocompatibility Antigens; Thymidine Monophosphate	2016
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. The Journal of pediatrics, 2010, Volume: 157, Issue:2 Topics: Algorithms; Homocysteine; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Neonatal Screening; Phenylalanine; Reference Values; Reproducibility of Results; Retrospective Studies; Tandem Mass Spectrometry	2010
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). Human mutation, 2010, Volume: 31, Issue:8 Topics: Amino Acid Sequence; Antigens, CD; Base Sequence; Cells, Cultured; DNA Mutational Analysis; Female; Fibroblasts; Homocysteine; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Methylmalonic Acid; Molecular Sequence Data; Mutation; Neonatal Screening; Pregnancy; Receptors, Cell Surface; Transcobalamins; Vitamin B 12	2010
Foreword to special issue on homocysteine disorders. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:1 Topics: Congresses as Topic; Dietary Supplements; Homocysteine; Humans; Hyperhomocysteinemia; Metabolic Diseases; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Vitamin B 12	2011
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
Proceedings of the 7th International Conference on Homocysteine Metabolism. June, 21-25, 2009. Prague, Czech Republic; and the Annual International Meeting on Inborn Errors of Metabolism. Fulda, Germany. Journal of inherited metabolic disease, 2011, Volume: 34, Issue:1 Topics: Homocysteine; Humans; Metabolism, Inborn Errors	2011
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency. European journal of pediatrics, 2003, Volume: 162, Issue:7-8 Topics: Child; Female; Folic Acid; Genes, Recessive; Homocysteine; Humans; Hyperhomocysteinemia; Male; Metabolism, Inborn Errors; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Polymorphism, Genetic; RNA Splice Sites	2003
Severe methylenetetrahydrofolate reductase deficiency, methionine synthase, and nitrous oxide--a cautionary tale. The New England journal of medicine, 2003, Jul-03, Volume: 349, Issue:1 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; 5,10-Methylenetetrahydrofolate Reductase (FADH2); Anesthetics, Inhalation; Folic Acid; Homocysteine; Humans; Male; Metabolism, Inborn Errors; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Nitrous Oxide; Oxidoreductases; Point Mutation	2003
Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. The New England journal of medicine, 2003, Jul-03, Volume: 349, Issue:1 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; 5,10-Methylenetetrahydrofolate Reductase (FADH2); Anesthetics, Inhalation; Cells, Cultured; DNA Mutational Analysis; Fatal Outcome; Fibroblasts; Folic Acid; Genes, Recessive; Homocysteine; Homocystine; Humans; Hyperhomocysteinemia; Infant; Male; Metabolism, Inborn Errors; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Nitrous Oxide; Oxidoreductases; Point Mutation; Polymorphism, Genetic; RNA	2003
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
Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6 Topics: Adult; Child, Preschool; Diagnosis, Differential; Female; Homocysteine; Homozygote; Humans; Hyperhomocysteinemia; Male; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Mutation; Mutation, Missense	2005
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5 Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational Analysis; Exons; Female; Folic Acid; Genetic Testing; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Marfan Syndrome; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Oxidoreductases; Pedigree; Phenotype; Treatment Outcome; Vitamin B 12; Vitamin B 6; Vitamins	2007
Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism: clinical and experimental, 1993, Volume: 42, Issue:11 Topics: Adolescent; Adult; Aged; Animals; Betaine; Betaine-Homocysteine S-Methyltransferase; Chromatography; Creatinine; Cystathionine beta-Synthase; Female; Folic Acid Deficiency; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Male; Metabolism, Inborn Errors; Methionine; Methyltransferases; Middle Aged; Rats; Rats, Sprague-Dawley; Reference Values; Renal Insufficiency; Sarcosine; Vitamin B 12; Vitamin B 12 Deficiency	1993
Purine and pyrimidine disorders, the porphyrias, homocysteine metabolism, trinucleotide repeat disorders. Proceedings of the 34th annual symposium of the Society for the Study of Inborn Errors of Metabolism. Cardiff, 1996. Journal of inherited metabolic disease, 1997, Volume: 20, Issue:2 Topics: Animals; Homocysteine; Humans; Metabolism, Inborn Errors; Porphyrias; Purine-Pyrimidine Metabolism, Inborn Errors; Trinucleotide Repeats	1997
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. American journal of medical genetics, 1998, May-18, Volume: 77, Issue:3 Topics: Angelman Syndrome; Child; Diagnosis, Differential; Homocysteine; Homocystinuria; Humans; Male; Metabolism, Inborn Errors; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Oxidoreductases Acting on CH-NH Group Donors; Phenotype; Vitamin B 12	1998
[A young patient with chronic recurrent leg ulcers; hyperhomocysteinemia and heterozygote for factor V Leiden]. Nederlands tijdschrift voor geneeskunde, 1998, Dec-05, Volume: 142, Issue:49 Topics: Adult; Anticoagulants; Bandages; Chronic Disease; Factor V; Folic Acid; Genetic Carrier Screening; Genetic Predisposition to Disease; Homocysteine; Humans; Leg Ulcer; Male; Metabolism, Inborn Errors; Secondary Prevention; Venous Thrombosis	1998
Primary prevention of coronary heart disease: from controversy to consensus. Nutrition, metabolism, and cardiovascular diseases : NMCD, 2000, Volume: 10, Issue:3 Topics: Algorithms; Biomarkers; Coronary Disease; Diagnostic Imaging; Homocysteine; Humans; Metabolism, Inborn Errors; Risk Factors	2000
EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria. Biology of the neonate, 2000, Volume: 78, Issue:4 Topics: Electroencephalography; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Metabolism, Inborn Errors; Methylmalonic Acid	2000
CblC/D defect combined with haemodynamically highly relevant VSD. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:4 Topics: Female; Folic Acid; Heart Septal Defects, Ventricular; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Lactic Acid; Metabolism, Inborn Errors; Methionine; Methylmalonic Acid	2001
Methionine auxotrophy in inborn errors of cobalamin metabolism. Clinical and investigative medicine. Medecine clinique et experimentale, 1992, Volume: 15, Issue:4 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Cell Division; Cell Line; Cobamides; Fibroblasts; Homocysteine; Humans; Metabolism, Inborn Errors; Methionine; Vitamin B 12; Vitamin B 12 Deficiency	1992
N-5,10-methylenetetrahydrofolate reductase deficiency and schizophrenia: a working hypothesis. Journal of psychiatric research, 1974, Volume: 11 Topics: Adolescent; Dopamine; Female; Fibroblasts; Folic Acid; Homocysteine; Humans; Male; Metabolism, Inborn Errors; Methylation; Methylenetetrahydrofolate Dehydrogenase (NADP); Methyltransferases; Oxidoreductases; Schizophrenia; Tetrahydrofolates	1974
Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism. Clinical science and molecular medicine, 1974, Volume: 47, Issue:1 Topics: Amino Acid Isomerases; Amino Acids; Anemia, Macrocytic; Autopsy; Brain; Brain Chemistry; Cells, Cultured; Child; Culture Media; Fibroblasts; Homocysteine; Humans; Intellectual Disability; Liver; Lung; Lyases; Malonates; Metabolism, Inborn Errors; Methionine; Spleen; Vitamin B 12	1974
[Hereditary deficiencies of B 12 coenzymes]. Therapeutique (La Semaine des hopitaux), 1971, Volume: 47, Issue:10 Topics: Coenzymes; Female; Homocysteine; Humans; Infant; Isomerases; Male; Metabolism, Inborn Errors; Methionine; Methyltransferases; Vitamin B 12; Vitamin B 12 Deficiency	1971
Defective metabolism of vitamin B 12 in fibroblasts from children with methylmalonicaciduria. Biochemical and biophysical research communications, 1971, Jul-16, Volume: 44, Issue:2 Topics: Adolescent; Adult; Cells, Cultured; Child; Child, Preschool; Cobalt Isotopes; Deoxyadenosines; Enzyme Activation; Fibroblasts; Folic Acid; Homocysteine; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Male; Malonates; Metabolism, Inborn Errors; Methylation; Methyltransferases; Vitamin B 12	1971
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