Page last updated: 2024-08-17

methionine and Inborn Errors of Metabolism

methionine has been researched along with Inborn Errors of Metabolism in 57 studies

Research

Studies (57)

Timeframe	Studies, this research(%)	All Research%
pre-1990	32 (56.14)	18.7374
1990's	8 (14.04)	18.2507
2000's	9 (15.79)	29.6817
2010's	6 (10.53)	24.3611
2020's	2 (3.51)	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
Kožich, V; Stabler, S	1
Kruger, WD	1
Lichter-Konecki, U; Sklirou, E	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
Cabili, MN; Ruppin, E; Shlomi, T	1
Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C	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
Longo, N; Pasquali, M	1
Erbe, RW; Salis, RJ	1
Hogan, K; Laxova, R; Rosenblatt, DS; Selzer, RR	1
Fowler, B; Koch, HG; Lagler, F; Linnebank, M; Muntau, AC; Olgemöller, B; Röschinger, W	1
Hirayama, M; Irie, M; Nakajima, H; Suwa, S; Wada, Y	1
Gaull, GE; Lonsdale, D; Przyrembel, H; Schaffner, F; Tallan, HH; von Bassewitz, DB	1
Allen, RH; Lindenbaum, J; Stabler, SP	1
Boles, RG; Horwich, AL; Kratz, LE; Ment, LR; Meyn, MS; Rinaldo, P	1
Cooper, BA; Dilling, LA; Haworth, JC; Lue-Shing, H; Rosenblatt, DS; Seargeant, LE; Surtees, RA	1
Adam, BW; Chace, DH; Hillman, SL; Kahler, SG; Levy, HL; Millington, DS	1
Gérard, M; Ogier de Baulny, H; Saudubray, JM; Zittoun, J	1
Arn, PH; Driscoll, DJ; Rosenblatt, DS; Williams, CA; Zori, RT	1
Duvaltier, I; Labrune, P; Marquet, J; Niaudet, P; Odièvre, M; Trioche, P; Zittoun, J	1
Chamberlin, ME; Chou, JY; Freehauf, C; Greene, C; Levy, HL; Mudd, SH; Nguyen, TK; Pao, VY; Thomas, J; Ubagai, T	1
Amirthalakshmi, S; Ramakrishnan, S; Sulochana, KN; Tamilselvi, R; Vasanthi, SB	1
Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK	1
Hayakawa, C; Kanazawa, N; Miyamoto, T; Tsujino, S	1
Allen, RH; Cottington, EM; LaMantia, C; Mudd, SH; Stabler, SP; Tangerman, A; Wagner, C; Zeisel, SH	1
Enzenauer, J; Matz, D; Menne, F	1
Abroms, IF; Carney, M; Cloherty, JP; Johnson, JL; Mandell, R; Rajagopalan, KV; Robb, RM; Shih, VE	1
Mudd, SH	1
Ambani, LM; Maskati, BT; Mehta, BC; Patel, ZM; Rao, BS	1
Berson, EL	1
Casey, R; Hill, A; Zaleski, WA	1
Cooper, BA	1
Centerwall, WR; Chinnock, RF; Goodman, SI; Mace, JW	1
Erbe, RE	1
Garovic-Kocic, V; Rosenblatt, DS	1
Roth, KS; Yang, W	1
Bickel, H; Mathias, D	1
Ahlstrom, A; Newberne, PM; Rogers, AE	1
Hunt, DM; Johnson, DR	1
Perrone, L	1
Sviatkina, OB; Vel'tishchev, IuE	1
Rosenberg, LE	1
Barthélémy, JP; Bousquet, B; Civatte, J; Dreux, C; Larregue, M	1
Ando, T; Fawcett, N; Julius, RL; Nyhan, WL; Rennert, OM	1
Cohen, M; Feiler-Ofry, V; Gobel, V; Sachs, W	1
Iivanainen, M; Palo, J; Savolainen, H	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
Thalhammer, O	1
Fontaine, G	1
Wada, Y	1
Abeles, RH; Dreyfus, PM; Levy, HL; Mudd, SH; Schulman, JD	1
Matthews, DM	1
Abeles, RH; Jennedy, JP; Levy, HL; Mudd, SH	1
Berlow, S	1

Reviews

13 review(s) available for methionine and Inborn Errors of Metabolism

Article	Year
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
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
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
Hereditary and nutritionally induced retinal degenerations: electrophysiologic and biochemical studies. Birth defects original article series, 1976, Volume: 12, Issue:3 Topics: Adolescent; Adult; Animals; Caseins; Child; Cysteine; Electrophysiology; Electroretinography; Humans; Metabolism, Inborn Errors; Methionine; Photoreceptor Cells; Retinal Degeneration; Retinitis Pigmentosa; Taurine	1976
Difficulties and pitfalls in the interpretation of screening tests for the detection of inborn errors of metabolism. Clinica chimica acta; international journal of clinical chemistry, 1976, Oct-01, Volume: 72, Issue:1 Topics: Anticonvulsants; Diet; Evaluation Studies as Topic; False Negative Reactions; False Positive Reactions; Genetic Variation; Humans; Infant Food; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Methionine; Methods; Penicillins	1976
Megaloblastic anaemia and disorders affecting utilisation of vitamin B12 and folate in childhood. Clinics in haematology, 1976, Volume: 5, Issue:3 Topics: Adolescent; Adult; Anemia, Hemolytic; Anemia, Macrocytic; Anemia, Megaloblastic; Anemia, Pernicious; Biological Transport; Bone Marrow; Bone Marrow Cells; Child; Child, Preschool; Female; Folic Acid; Folic Acid Deficiency; Homocystinuria; Humans; Infant; Intrinsic Factor; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Orotic Acid; Phenylketonurias; Tetrahydrofolate Dehydrogenase; Transcobalamins; Vitamin B 12	1976
Inborn errors of folate metabolism (first of two parts). The New England journal of medicine, 1975, Oct-09, Volume: 293, Issue:15 Topics: Adult; Animals; Bone Marrow; Bone Marrow Cells; DNA; Fibroblasts; Folic Acid; Folic Acid Deficiency; Humans; Liver; Metabolism, Inborn Errors; Methionine; Methyltransferases; Rats; Skin; Tetrahydrofolate Dehydrogenase; Vitamin B 12; Vitamin B 12 Deficiency	1975
[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
Too much of a good thing. Food and cosmetics toxicology, 1971, Volume: 9, Issue:1 Topics: Amino Acids; Animals; Blood Pressure; Central Nervous System; Eye Diseases; Food Additives; Glutamates; Glycine; Hepatic Encephalopathy; Humans; Hypothalamus; Intellectual Disability; Metabolism, Inborn Errors; Methionine; Mice; Nausea; Necrosis; Neurons; Rats; Retina; Vomiting	1971

Other Studies

44 other study(ies) available for methionine and Inborn Errors of Metabolism

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
Predicting metabolic biomarkers of human inborn errors of metabolism. Molecular systems biology, 2009, Volume: 5 Topics: Biological Transport; Biomarkers; Erythrocytes; Humans; Kinetics; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Methionine; Models, Biological; Reproducibility of Results	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. Molecular genetics and metabolism, 2010, Volume: 99, Issue:2 Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Association Studies; Homocystinuria; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Methionine; Methylmalonic Acid; Neonatal Screening; New York; Propionates; Referral and Consultation; Vitamin B 12	2010
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
Newborn screening and inborn errors of metabolism. American journal of medical genetics. Part C, Seminars in medical genetics, 2011, Feb-15, Volume: 157C, Issue:1 Topics: Humans; Infant, Newborn; Metabolism, Inborn Errors; Methionine; Neonatal Screening; Urea Cycle Disorders, Inborn	2011
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
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
Newborn mass screening in Japan--1984. Jinrui idengaku zasshi. The Japanese journal of human genetics, 1984, Volume: 29, Issue:3 Topics: Congenital Hypothyroidism; Genetic Diseases, Inborn; Genetic Testing; Humans; Hypothyroidism; Infant, Newborn; Japan; Mass Screening; Metabolism, Inborn Errors; Methionine	1984
Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. The Journal of pediatrics, 1981, Volume: 98, Issue:5 Topics: Adult; Child; Cystathionine beta-Synthase; Female; Humans; Infant; Infant, Newborn; Liver; Liver Function Tests; Male; Mass Screening; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Microscopy, Electron; Transferases	1981
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
Short-term response to dietary therapy in molybdenum cofactor deficiency. Annals of neurology, 1993, Volume: 34, Issue:5 Topics: Acidosis, Lactic; Coenzymes; Cysteine; Developmental Disabilities; Female; Food, Fortified; Humans; Infant; Lactates; Metabolism, Inborn Errors; Metalloproteins; Methionine; Microcephaly; Molybdenum Cofactors; Pteridines	1993
Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers. American journal of medical genetics, 1993, Mar-01, Volume: 45, Issue:5 Topics: Adult; Betaine; Enzyme Stability; Folic Acid; Homocystine; Humans; Male; Metabolism, Inborn Errors; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Nervous System Diseases; Oxidoreductases Acting on CH-NH Group Donors; Paraparesis, Tropical Spastic	1993
Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. Clinical chemistry, 1996, Volume: 42, Issue:3 Topics: Blood Specimen Collection; Chromatography, High Pressure Liquid; Homocystinuria; Humans; Infant, Newborn; Isoleucine; Leucine; Mass Spectrometry; Metabolism, Inborn Errors; Methionine; Neonatal Screening; Paper; Sensitivity and Specificity	1996
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
Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency. European journal of pediatrics, 1999, Volume: 158, Issue:9 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Anemia, Megaloblastic; Female; Hemolytic-Uremic Syndrome; Humans; Hypertension, Pulmonary; Infant; Metabolism, Inborn Errors; Methionine; Vitamin B 12	1999
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. American journal of human genetics, 2000, Volume: 66, Issue:2 Topics: Adolescent; Adult; Alleles; Alternative Splicing; Brain; Child; Child, Preschool; Exons; Female; Genes, Dominant; Genes, Recessive; Humans; Infant; Infant, Newborn; Introns; Male; Metabolism, Inborn Errors; Methionine; Methionine Adenosyltransferase; Mutation; Mutation, Missense; Pedigree; Phenotype; Polymorphism, Single-Stranded Conformational; RNA, Messenger	2000
Homocystinuria with congenital/developmental cataract. Indian journal of pediatrics, 2000, Volume: 67, Issue:10 Topics: Adult; Cataract; Child; Chromatography, Paper; Female; Homocystine; Homocystinuria; Humans; Male; Mass Screening; Metabolism, Inborn Errors; Methionine; Pyridoxine	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
A novel mutation, P126R, in a Japanese patient with HHH syndrome. Pediatric neurology, 2002, Volume: 26, Issue:1 Topics: Adolescent; Ammonia; Base Sequence; Brain Diseases; Carrier Proteins; Cysts; DNA Primers; Exons; Gene Expression; Humans; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Methionine; Mitochondrial Diseases; Molecular Sequence Data; Ornithine; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Septum Pellucidum; Syndrome; Tomography, X-Ray Computed	2002
Adverse event associated with methionine loading test: a case report. Arteriosclerosis, thrombosis, and vascular biology, 2002, Jun-01, Volume: 22, Issue:6 Topics: Administration, Oral; Aged; Black or African American; Brain Death; Disease Susceptibility; Drug Contamination; Drug Overdose; Fatal Outcome; Female; Genetic Predisposition to Disease; Humans; Hyperhomocysteinemia; Inactivation, Metabolic; Metabolism, Inborn Errors; Methionine	2002
[Diagnosis and therapy of 6 hereditary, to mental-deficiency-leading, metabolic disorders. 2]. Medizinische Klinik, 1976, Apr-30, Volume: 71, Issue:18 Topics: Acute Disease; Diagnosis, Differential; Galactose; Galactosemias; Germany, West; Histidine; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Methionine; Phosphotransferases	1976
Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. The New England journal of medicine, 1977, Nov-10, Volume: 297, Issue:19 Topics: Amino Acids, Sulfur; Child, Preschool; Cysteine; Hemiplegia; Humans; Lens Subluxation; Male; Metabolism, Inborn Errors; Methionine; Oxidoreductases; Sulfites; Sulfur	1977
Sulphur in biology. General discussion. Ciba Foundation symposium, 1979, Issue:72 Topics: Animals; Biological Transport; Energy Metabolism; Escherichia coli; Iron-Sulfur Proteins; Liver; Metabolism, Inborn Errors; Methionine; Oxidation-Reduction; Salmonella typhimurium; Sulfates; Sulfides; Sulfur; Thiobacillus; Thiosulfate Sulfurtransferase; Thiosulfates	1979
Homocystinuria--response to pyridoxine therapy. The Journal of the Association of Physicians of India, 1979, Volume: 27, Issue:8 Topics: Adolescent; Child; Ectopia Lentis; Female; Homocystinuria; Humans; Male; Metabolism, Inborn Errors; Methionine; Pyridoxine	1979
The child with an unusual odor. A clinical resumé. Clinical pediatrics, 1976, Volume: 15, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Choline; Diabetes Mellitus, Type 1; Diabetic Ketoacidosis; Humans; Infant; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Odorants; Phenylketonurias; Tyrosine	1976
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
Defect in alpha-ketobutyrate metabolism: a new inborn error. Clinica chimica acta; international journal of clinical chemistry, 1985, Jan-30, Volume: 145, Issue:2 Topics: Acidosis; Amino Acids; Butyrates; Carbon Dioxide; Child; Child, Preschool; Fasting; Female; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Hydrogen-Ion Concentration; Keto Acids; Male; Metabolism, Inborn Errors; Methionine; Propionates	1985
Inter-laboratory quality control in neonatal screening for inborn errors of metabolism. European journal of pediatrics, 1985, Volume: 144, Issue:2 Topics: Diagnostic Tests, Routine; False Negative Reactions; Galactose; Germany, West; Humans; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Methionine; National Health Programs; Phenylalanine; Quality Control	1985
Effects of maternal dietary lipotropes on prenatal and neonatal rats. The Journal of nutrition, 1970, Volume: 100, Issue:9 Topics: Animal Nutritional Physiological Phenomena; Animals; Animals, Newborn; Choline; Female; Lipotropic Agents; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Methionine; Nutritional Requirements; Pregnancy; Pregnancy, Animal; Prenatal Care; Protein Deficiency; Rats; Vitamin B 12	1970
An inherited deficiency in noradrenaline biosynthesis in the brindled mouse. Journal of neurochemistry, 1972, Volume: 19, Issue:12 Topics: Age Factors; Amino Acids; Animals; Brain; Brain Chemistry; Carbon Isotopes; Dopamine; In Vitro Techniques; Male; Metabolism, Inborn Errors; Methionine; Mice; Monoamine Oxidase; Myocardium; Norepinephrine; Reserpine; Synaptosomes; Temperature; Tritium; Tyrosine; Tyrosine 3-Monooxygenase	1972
[Diet therapy of some inborn errors of metabolism]. La Pediatria, 1974, Sep-30, Volume: 82, Issue:2 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Celiac Disease; Child; Child, Preschool; Histidine; Humans; Hypoglycemia; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Lactose Intolerance; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Phenylketonurias; Proteins; Tyrosine	1974
[Pellagroid syndrome with vitamin B6 deficiency. Biological and clinical study of a case]. Annales de biologie clinique, 1972, Volume: 30, Issue:6 Topics: Amino Acids; Cystine; Humans; Indoleacetic Acids; Liver Cirrhosis; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Pellagra; Serotonin; Sulfur; Taurine; Tryptophan; Vitamin B 6 Deficiency; Xanthurenates	1972
Response to dietary therapy in B 12 unresponsive methylmalonic acidemia. Pediatrics, 1973, Volume: 51, Issue:3 Topics: Acidosis; Agranulocytosis; Blood Glucose; Cephalometry; Child Development; Diet Therapy; Electroencephalography; Female; Growth Disorders; Humans; Infant; Intelligence; Isoleucine; Lymphocytosis; Malonates; Metabolism, Inborn Errors; Methionine; Otitis Media; Threonine; Valine; Vitamin B 12	1973
[Homocystinuria]. Harefuah, 1973, Dec-16, Volume: 85, Issue:12 Topics: Consanguinity; Female; Glaucoma; Homocystinuria; Humans; Lens, Crystalline; Metabolism, Inborn Errors; Methionine	1973
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study. Journal of mental deficiency research, 1973, Volume: 17, Issue:2 Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Cystine; Epilepsy; Female; Glutamates; Glutamine; Humans; Intellectual Disability; Intelligence Tests; Isoleucine; Leucine; Lysine; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Ornithine; Phenylalanine; Pneumoencephalography; Threonine; Valine	1973
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
[Demands on screening tests in inborn anomalies of metabolism]. Wiener klinische Wochenschrift, 1970, Oct-18, Volume: 82, Issue:42 Topics: Bacillus subtilis; Chromatography; Chromatography, Paper; Culture Media; Galactose; Histidine; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Methionine; Phenylalanine; Tyrosine	1970
[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
[Inborn error of vitamin B12 metabolism]. Nihon rinsho. Japanese journal of clinical medicine, 1969, Volume: 27, Issue:8 Topics: Coenzymes; Folic Acid; Humans; Malonates; Metabolism, Inborn Errors; Methionine; Vitamin B 12	1969
A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria. The American journal of medicine, 1970, Volume: 48, Issue:3 Topics: Acidosis; Amino Acids; Aminobutyrates; Brain; Chromatography, Paper; Fibroblasts; Homocystine; Humans; Hydro-Lyases; Infant, Newborn; Infant, Newborn, Diseases; Isomerases; Kidney; Liver; Male; Malonates; Metabolism, Inborn Errors; Methionine; Transferases; Vitamin B 12; Vitamin B 12 Deficiency	1970
Experimental approach in chemical pathology. British medical journal, 1971, Sep-18, Volume: 3, Issue:5776 Topics: Adult; Amblyopia; Animals; Biological Transport; Cystinuria; Dipeptides; Female; Glycine; Hartnup Disease; Humans; Intestinal Absorption; Metabolic Diseases; Metabolism, Inborn Errors; Methionine; Nitrogen; Peptides; Proteins; Smoking; Tyrosine; 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
Studies in cystathioninemia. American journal of diseases of children (1960), 1966, Volume: 112, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Cystinuria; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Methionine; Pyridoxine	1966