Page last updated: 2024-08-17

folic acid and Inborn Errors of Metabolism

folic acid has been researched along with Inborn Errors of Metabolism in 91 studies

Research

Studies (91)

Timeframe	Studies, this research(%)	All Research%
pre-1990	56 (61.54)	18.7374
1990's	9 (9.89)	18.2507
2000's	16 (17.58)	29.6817
2010's	7 (7.69)	24.3611
2020's	3 (3.30)	2.80

Authors

Authors	Studies
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
Guéant, JL; Jeannesson, E; Levy, J; Oussalah, A; Rodriguez-Guéant, RM; Wahl, D; Ziuly, S	1
Ahmadi, KR; Andrew, T; Gill, R; Gillham-Nasenya, I	1
Aiello, C; Boenzi, S; Cogo, P; Di Chiara, L; Dionisi-Vici, C; Iodice, FG; Monti, L	1
Tabarki, B; Thabet, F	1
Field, MS; Kamynina, E; Stover, PJ	1
Ortigoza Escobar, JD; Pérez Dueñas, B	1
Campanella, E; Goldman, ID; Low, PS; Min, SH; Wang, Y; Zhao, R	1
Diaz, GA; Kirmse, B; Profitlich, LE; Srivastava, S; Wasserstein, MP	1
Carey, JC; Cutler, R; Feldkamp, ML; Johnston, KE; Munger, RG; Murtaugh, MA; Pfister, R; Tamura, T	1
Ganesh, J; Kaplan, BS; Majewski, J; Nunez, LD; Orange, JS; Rosenblatt, DS; Schwartzentruber, JA; Watkins, D	1
Bodamer, OA; Smith, DL	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
ARAKAWA, T; HAYASHI, T; KUDO, Z; MIZUNO, T; OHARA, K; TADA, K	1
DIAMOND, LK; NATHAN, DG; OSKI, FA; SIDEL, VW	1
BECROFT, DM; PHILLIPS, LI	1
Carmel, R; Green, R; Rosenblatt, DS; Watkins, D	1
Bodamer, OA; Fowler, B; Huemer, M; Sass, JO; Simma, B; Suormala, T	1
Artuch, R; Barbot, C; Campistol, J; Carilho, I; Cormand, B; Fernández Alvarez, E; García Cazorla, A; García Silva, M; López Laso, E; Moller, L; Ormazabal, A; Pérez Dueñas, B; Pineda, M; Ribases, M; Ruiz, A	1
Whitehead, VM	1
Shinawi, M	1
Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ	1
Mathews, J; Partington, MW	1
Bartlett, K	1
Fleisher, LD; Gaull, GE	1
Malaguzzi Valeri, C	1
Bower, C; Croft, M; Davis, RE; de Klerk, N; Nicol, DJ; Stanley, FJ	1
Metz, J	1
Cooper, BA; Dilling, LA; Haworth, JC; Lue-Shing, H; Rosenblatt, DS; Seargeant, LE; Surtees, RA	1
Zittoun, J	1
Rosenberg, IH; Rosenberg, LE	1
Gérard, M; Ogier de Baulny, H; Saudubray, JM; Zittoun, J	1
Eskes, TK	1
Boer, J; Kolbach, DN	1
Ito, M; Kuroda, Y; Naito, E	1
Haurani, FI	1
Fowler, B	1
Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK	1
Erbe, RW	2
Anthony, BK; Branda, RF; Jacob, HS; MacArthur, JR; Moldow, CF; Wintrobe, MM	1
Babior, BM	1
Rosenberg, LE	1
Woolf, LI	1
Cooper, BA	1
Reynolds, EH	1
Erbe, RE	1
Fricke, NL; Springer, NS	1
Heimburger, DC	1
Bruinvis, L; Duran, M; Wadman, SK	1
Buchanan, JA; Rosenblatt, DS; Scriver, CR	1
Greene, HL; Herman, RH; Stifel, FB	2
Freeman, JM; Mudd, SH	1
Streiff, RR	1
Maldonado, N; Pérez-Santiago, E; Santiago-Borrero, PJ; Santini, R	1
Arakawa, T	3
Sviatkina, OB; Vel'tishchev, IuE	1
Herbert, V	2
Arakawa, T; Honda, Y; Yoshida, T	1
Zittoun, J; Zittoun, R	1
Arakawa, T; Narisawa, K	1
Louis, J	1
Arakawa, M	2
Presentey, B; Szapiro, L	1
Folkers, K	1
Hart, PG	1
Arakawa, T; Hirooka, Y; Narisawa, K; Ono, T; Tanno, K	1
Arakawa, T; Higashi, O; Ohara, K; Tamura, T; Tanno, K	1
Rowe, PB	1
Mahoney, MJ; Mudd, SH; Rosenberg, LE; Uhlendorf, BW	1
Wada, Y	1
Lommen, EJ; Schretlen, ED; Trijbels, JM; van der Zee, SP	1
Kane, FJ; Lipton, M	1
Arakawa, T; Mochizuki, K; Narisawa, K; Tada, K; Tamura, T	1
Kikuchi, G; Yoshida, T	1
Arakawa, T; Chiba, R; Hayashi, T; Mizuno, T; Ogasawara, J; Ohara, K; Okamura, T; Tada, K; Takahashi, Y; Wada, Y; Yoshida, T	1
Arakawa, T; Fujii, M; Hirono, H; Karahashi, M; Kobayashi, M; Ohara, K; Watanabe, S	1
Arakawa, T; Hirono, H	1
Arakawa, T; Wada, Y	1
Arakawa, T; Fujii, M; Ohara, K	1
Carey, M; Fennelly, JJ; FitzGerald, O	1

Reviews

31 review(s) available for folic acid and Inborn Errors of Metabolism

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
[Vitamin-responsive epilepsies: an update]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2013, Volume: 20, Issue:11 Topics: Avitaminosis; Biopterins; Biotinidase; Enzyme Replacement Therapy; Epilepsy; Folic Acid; Humans; Metabolism, Inborn Errors; Pyridoxine; Vitamin B Complex	2013
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency. Seminars in pediatric neurology, 2016, Volume: 23, Issue:4 Topics: Child, Preschool; Folic Acid; Folic Acid Deficiency; Humans; Infant; Infant, Newborn; Membrane Transport Proteins; Metabolism, Inborn Errors; Thiamine; Thiamine Deficiency	2016
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
Acquired and inherited disorders of cobalamin and folate in children. British journal of haematology, 2006, Volume: 134, Issue:2 Topics: Diet; Folic Acid; Folic Acid Deficiency; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neural Tube Defects; Vitamin B 12; Vitamin B 12 Deficiency	2006
Hyperhomocysteinemia and cobalamin disorders. Molecular genetics and metabolism, 2007, Volume: 90, Issue:2 Topics: Biological Transport; Folic Acid; Humans; Hyperhomocysteinemia; Intrinsic Factor; Metabolism, Inborn Errors; Methylenetetrahydrofolate Reductase (NADPH2); Vitamin B 12; Vitamin B 12 Deficiency	2007
Vitamin-responsive inborn errors of metabolism. Advances in clinical chemistry, 1983, Volume: 23 Topics: Acetyl-CoA Carboxylase; Acidosis; Amino Acid Metabolism, Inborn Errors; Animals; Biotin; Folic Acid; Glutaryl-CoA Dehydrogenase; Humans; Intestinal Absorption; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methemoglobinemia; Methylmalonic Acid; Oxidoreductases; Oxidoreductases Acting on CH-CH Group Donors; Propionates; Pyridoxine; Pyruvate Carboxylase Deficiency Disease; Pyruvate Kinase; Riboflavin; Tetrahydrofolate Dehydrogenase; Thiamine; Transcobalamins; Vitamin B 12; Vitamins	1983
Enzyme manipulation by specific megavitamin therapy. Birth defects original article series, 1980, Volume: 16, Issue:1 Topics: Amino Acids; Biotin; Coenzymes; Enzymes; Folic Acid; Humans; Metabolism, Inborn Errors; Orthomolecular Therapy; Pyridoxine; Thiamine; Vitamin B 12	1980
[Vitamins in metabolic diseases]. Acta vitaminologica et enzymologica, 1981, Volume: 3, Issue:1 Topics: Biotin; Dose-Response Relationship, Drug; Folic Acid; Humans; Metabolism, Inborn Errors; Niacin; Nicotinic Acids; Pyridoxine; Thiamine; Vitamin B 12; Vitamin D; Vitamins	1981
Congenital errors of folate metabolism. Bailliere's clinical haematology, 1995, Volume: 8, Issue:3 Topics: Female; Folic Acid; Humans; Metabolism, Inborn Errors; Pregnancy	1995
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
[Vitamin dependency syndrome]. Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4 Topics: Biotin; Diagnosis, Differential; Folic Acid; Humans; Metabolism, Inborn Errors; Nervous System Diseases; Prognosis; Pyridoxine; Syndrome; Thiamine; Vitamin B 12; Vitamin D; Vitamin E Deficiency	2000
Cobalamins and folates as seen through inborn errors of metabolism: a review and perspective. Vitamins and hormones, 2000, Volume: 60 Topics: Bone Marrow; Folic Acid; Humans; Metabolism, Inborn Errors; Vitamin B 12	2000
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
Genetic aspects of folate metabolism. Advances in human genetics, 1979, Volume: 9 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Aminohydrolases; Dihydropteridine Reductase; Folic Acid; Folic Acid Deficiency; Formate-Tetrahydrofolate Ligase; Formiminoglutamic Acid; Glycine Hydroxymethyltransferase; Humans; Metabolism, Inborn Errors; Methionine Adenosyltransferase; Methylenetetrahydrofolate Dehydrogenase (NADP); Tetrahydrofolate Dehydrogenase; Thymidylate Synthase; Transferases; Vitamin B 12 Deficiency	1979
Vitamin-responsive inherited metabolic disorders. Advances in human genetics, 1976, Volume: 6 Topics: Adolescent; Adult; Anemia, Megaloblastic; Avitaminosis; Biological Transport; Biotin; Carrier Proteins; Child; Child, Preschool; Coenzymes; Female; Folic Acid; Folic Acid Deficiency; Genetic Linkage; Humans; Infant; Infant, Newborn; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Phenotype; Sex Chromosomes; Thiamine Deficiency; Vitamin B 6 Deficiency; Vitamin B Deficiency; Vitamin D Deficiency; Vitamins	1976
The dietary treatment of inborn errors of metabolism. The Proceedings of the Nutrition Society, 1976, Volume: 35, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Child; Female; Folic Acid; Galactosemias; Glutamate Decarboxylase; Homocystinuria; Humans; Infant; Infant, Newborn; Lactose Intolerance; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Phenylketonurias; Pregnancy; Vitamin B 12	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
Neurological aspects of folate and vitamin B12 metabolism. Clinics in haematology, 1976, Volume: 5, Issue:3 Topics: Adult; Aged; Anemia, Megaloblastic; Anticonvulsants; Blood-Brain Barrier; Brain; Brain Diseases; Child; Epilepsy; Erythrocytes; Female; Folic Acid; Folic Acid Deficiency; Formiminoglutamic Acid; Humans; Intellectual Disability; Male; Mental Disorders; Metabolism, Inborn Errors; Methotrexate; Middle Aged; Nervous System Diseases; Vitamin B 12; Vitamin B 12 Deficiency	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
Inborn errors of folate metabolism (second of two parts). The New England journal of medicine, 1975, Oct-16, Volume: 293, Issue:16 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adolescent; Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child; Female; Folic Acid; Formates; Glutamates; Glycine; Humans; Hydrolases; Imines; Infant; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Methionine Adenosyltransferase; Methylenetetrahydrofolate Dehydrogenase (NADP); Phenylketonurias; Tetrahydrofolate Dehydrogenase; Tetrahydrofolates; Transferases; Vitamin B 12	1975
Nutrition and drug therapy for persons with developmental disabilities. American journal of mental deficiency, 1975, Volume: 80, Issue:3 Topics: Anticonvulsants; Antidepressive Agents; Appetite; Dextroamphetamine; Drug-Related Side Effects and Adverse Reactions; Folic Acid; Growth; Humans; Hyperkinesis; Intellectual Disability; Metabolism, Inborn Errors; Methylphenidate; Nutritional Physiological Phenomena; Pyridoxine; Tranquilizing Agents; Vitamin B 12; Vitamin D; Vitamins	1975
Localized deficiencies of folic acid in aerodigestive tissues. Annals of the New York Academy of Sciences, 1992, Sep-30, Volume: 669 Topics: Colitis, Ulcerative; Esophageal Neoplasms; Folic Acid; Folic Acid Deficiency; Humans; Metabolism, Inborn Errors; Risk Factors; Smoking	1992
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
[Disorders of folate metabolism--primary and secondary metabolic disorders]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1972, Volume: 17, Issue:3 Topics: Animals; Child; DNA; Folic Acid; Folic Acid Deficiency; Formamides; Histidine; Humans; Liver; Metabolism, Inborn Errors; Phenytoin; Purines; Rats; Riboflavin Deficiency; RNA; Transferases	1972
[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
The five possible causes of all nutrient deficiency: illustrated by deficiencies of vitamin B 12. The American journal of clinical nutrition, 1973, Volume: 26, Issue:1 Topics: Age Factors; Diet; Female; Folic Acid; Folic Acid Deficiency; Gastrointestinal Diseases; Humans; Infant; Intrinsic Factor; Malabsorption Syndromes; Metabolic Diseases; Metabolism, Inborn Errors; Nutrition Disorders; Nutritional Physiological Phenomena; Nutritional Requirements; Pregnancy; Time Factors; Vitamin B 12; Vitamin B 12 Deficiency	1973
Differentiation of anemias. The Medical clinics of North America, 1969, Volume: 53, Issue:1 Topics: Anemia; Anemia, Hemolytic; Anemia, Hypochromic; Anemia, Macrocytic; Bone Marrow Examination; Clinical Enzyme Tests; Diagnosis, Differential; Electrophoresis; Folic Acid; Hemoglobinopathies; Hemoglobins; Hemorrhage; Humans; Iron; Metabolism, Inborn Errors; Schilling Test	1969
Survey on the vitamin aspects of coenzyme Q. Internationale Zeitschrift fur Vitaminforschung. International journal of vitamin research. Journal international de vitaminologie, 1969, Volume: 39, Issue:3 Topics: Animals; Avitaminosis; Benzoates; Binding Sites; Electron Transport; Folic Acid; Haplorhini; Humans; Lipid Metabolism; Metabolism, Inborn Errors; Mevalonic Acid; Mice; Muscular Dystrophies; Oxidoreductases; Peroxides; Rabbits; Rats; Saccharomyces; Semantics; Succinate Dehydrogenase; Ubiquinone; Vitamin E Deficiency; Vitamins	1969

Trials

1 trial(s) available for folic acid and Inborn Errors of Metabolism

Article	Year
The prophylactic use of folic acid in neonatal hypertyrosinemia. Pediatrics, 1967, Volume: 39, Issue:5 Topics: Behavior; Chromatography; Folic Acid; Humans; Infant, Newborn; Infant, Premature, Diseases; Metabolic Diseases; Metabolism, Inborn Errors; Placebos; Tyrosine	1967

Other Studies

59 other study(ies) available for folic acid and Inborn Errors of Metabolism

Article	Year
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
Unravelling the basis of variability in cobalamin levels in the general population. The British journal of nutrition, 2013, Nov-14, Volume: 110, Issue:9 Topics: Adult; Age Factors; Alcohol Drinking; Body Mass Index; Exercise; Female; Folic Acid; Genotype; Humans; Metabolism, Inborn Errors; Middle Aged; Phenotype; Polymorphism, Genetic; Smoking; Social Class; Vitamin B 12; Vitamin B 12 Deficiency	2013
Cobalamin C defect presenting with isolated pulmonary hypertension. Pediatrics, 2013, Volume: 132, Issue:1 Topics: Betaine; Brain; Child, Preschool; Diagnosis, Differential; Drug Therapy, Combination; Folic Acid; Genetic Carrier Screening; Humans; Hydroxocobalamin; Hypertension, Pulmonary; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Infant; Infant, Newborn; Injections, Intramuscular; Lung; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Neonatal Screening; Proto-Oncogene Proteins c-cbl; Pulmonary Artery; Tomography, X-Ray Computed; Vitamin B 12 Deficiency	2013
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
A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis. The Journal of biological chemistry, 2009, Feb-13, Volume: 284, Issue:7 Topics: Biological Transport, Active; Carrier Proteins; Cytosol; Endocytosis; Endosomes; Folate Receptors, GPI-Anchored; Folic Acid; HeLa Cells; Humans; Hydrogen-Ion Concentration; Intestinal Absorption; Malabsorption Syndromes; Membrane Transport Proteins; Metabolism, Inborn Errors; Probenecid; Proton-Coupled Folate Transporter; Receptors, Cell Surface; Uricosuric Agents	2009
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Molecular genetics and metabolism, 2009, Volume: 98, Issue:4 Topics: Adolescent; Adult; Child; Child, Preschool; Demography; Diagnostic Imaging; Female; Folic Acid; Heart Diseases; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Prevalence; Ultrasonography; United States; Young Adult	2009
Oral clefts and maternal biomarkers of folate-dependent one-carbon metabolism in Utah. Birth defects research. Part A, Clinical and molecular teratology, 2011, Volume: 91, Issue:3 Topics: Adult; Biomarkers; Carbon; Case-Control Studies; Cleft Lip; Cleft Palate; Female; Folic Acid; Folic Acid Deficiency; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Mothers; Pregnancy; Risk Factors; Utah; Young Adult	2011
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. Journal of medical genetics, 2011, Volume: 48, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Exome; Female; Folic Acid; Humans; Hyperhomocysteinemia; Infant; Metabolism, Inborn Errors; Methylenetetrahydrofolate Dehydrogenase (NADP); Minor Histocompatibility Antigens; Mutation; Severe Combined Immunodeficiency	2011
Practical management of combined methylmalonicaciduria and homocystinuria. Journal of child neurology, 2002, Volume: 17, Issue:5 Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal Agents; Hematinics; Homocystinuria; Humans; Hydrocephalus; Hydroxocobalamin; Injections, Intramuscular; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Microcephaly; Seizures	2002
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
"HYPERFOLIC-ACIDEMIA WITH FORMIMINOGLUTAMIC-ACIDURIA FOLLOWING HISTIDINE LOADING". SUGGESTED FOR A CASE OF CONGENITAL DEFICIENCY IN FORMIMINOTRANSFERASE. The Tohoku journal of experimental medicine, 1963, Sep-25, Volume: 80 Topics: Blood; Folic Acid; Glutamate Formimidoyltransferase; Glutamates; Histidine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Metabolic Diseases; Metabolism; Metabolism, Inborn Errors; Urine	1963
EXTREME HEMOLYSIS AND RED-CELL DISTORTION IN ERYTHROCYTE PYRUVATE KINASE DEFICIENCY. II. MEASUREMENTS OF ERYTHROCYTE GLUCOSE CONSUMPTION, POTASSIUM FLUX AND ADENOSINE TRIPHOSPHATE STABILITY. The New England journal of medicine, 1965, Jan-21, Volume: 272 Topics: Adenosine Triphosphate; Anemia, Hemolytic; Anemia, Hemolytic, Congenital Nonspherocytic; Biological Transport; Child; Erythrocytes; Folic Acid; Glucose; Hemolysis; Humans; Metabolism, Inborn Errors; Potassium; Pyruvate Kinase; Pyruvate Metabolism, Inborn Errors; Reticulocytes; Vitamin B 12	1965
HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE. British medical journal, 1965, Feb-27, Volume: 1, Issue:5434 Topics: Anemia; Anemia, Macrocytic; Anemia, Megaloblastic; Bone Marrow Examination; Child; Fluids and Secretions; Folic Acid; Humans; Infant; Metabolism, Inborn Errors; Nucleosides; Orotic Acid; Prognosis; Purine-Pyrimidine Metabolism, Inborn Errors; Pyridoxine; Thyroxine; Uridine; Urine; Vitamin B 12	1965
Prenatal and postnatal treatment in cobalamin C defect. The Journal of pediatrics, 2005, Volume: 147, Issue:4 Topics: Betaine; Carnitine; Female; Folic Acid; Hematinics; Humans; Hydroxocobalamin; Infant, Newborn; Lipotropic Agents; Male; Metabolism, Inborn Errors; Pregnancy; Prenatal Care; Prenatal Diagnosis; Vitamin B 12 Deficiency	2005
[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier]. Medicina clinica, 2006, Jun-17, Volume: 127, Issue:3 Topics: Blood-Brain Barrier; Child, Preschool; Folic Acid; Glucose; Humans; Infant; Metabolism, Inborn Errors; Neurotransmitter Agents; Pterins	2006
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
Absorption of pteroylpolyglutamates in mothers of infants with neural tube defects. The British journal of nutrition, 1993, Volume: 69, Issue:3 Topics: Adult; Erythrocytes; Female; Folic Acid; Humans; Hydrolysis; Intestinal Absorption; Metabolism, Inborn Errors; Neural Tube Defects	1993
Pathogenesis of cobalamin neuropathy: deficiency of nervous system S-adenosylmethionine? Nutrition reviews, 1993, Volume: 51, Issue:1 Topics: Child, Preschool; Folic Acid; Folic Acid Deficiency; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Nervous System Diseases; S-Adenosylmethionine; Vitamin B 12; Vitamin B 12 Deficiency	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
[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
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
Editorial: The methylfolate-trap hypothesis. Lancet (London, England), 1975, Apr-12, Volume: 1, Issue:7911 Topics: Adolescent; Animals; Child, Preschool; Folic Acid; Humans; Infant; Male; Metabolism, Inborn Errors; Methyltransferases; Rats; Sheep; Vitamin B 12; Vitamin B 12 Deficiency	1975
Folate-induced remission in aplastic anemia with familial defect of cellular folate uptake. The New England journal of medicine, 1978, Mar-02, Volume: 298, Issue:9 Topics: Adult; Anemia, Aplastic; Blood Cells; Bone Marrow; Bone Marrow Cells; Cells, Cultured; Erythrocytes; Folic Acid; Folic Acid Deficiency; Hematologic Diseases; Hematopoiesis; Humans; Lymphocytes; Male; Metabolism, Inborn Errors; Pedigree	1978
Folate and aplasia of bone marrow. The New England journal of medicine, 1978, Mar-02, Volume: 298, Issue:9 Topics: Anemia, Aplastic; DNA; Folic Acid; Folic Acid Deficiency; Hematologic Diseases; Humans; Metabolism, Inborn Errors; Tetrahydrofolates	1978
Quantitative gas chromatographic determination of urinary hydantoin-5-propionic acid in patients with disorders of folate/vitamin B12 metabolism. Journal of chromatography, 1986, Sep-05, Volume: 381, Issue:2 Topics: Adult; Child; Child, Preschool; Chromatography, Gas; Female; Folic Acid; Formiminoglutamic Acid; Humans; Hydantoins; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Vitamin B 12	1986
Cultured human fibroblasts and plasma membrane vesicles to investigate transport function and the effects of genetic mutation. Annals of the New York Academy of Sciences, 1985, Volume: 456 Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Cell Membrane; Cells, Cultured; Diffusion; Electrochemistry; Fibroblasts; Folic Acid; Humans; Lysine; Membrane Potentials; Metabolism, Inborn Errors; Mutation; Potassium; Tetrahydrofolates	1985
"Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid. American journal of diseases of children (1960), 1972, Volume: 124, Issue:3 Topics: Acidosis; Alanine; Aldehyde-Lyases; Child, Preschool; Fasting; Female; Folic Acid; Fructose; Fructose-Bisphosphatase; Glycerol; Humans; Hypoglycemia; Intestine, Small; Liver; Liver Diseases; Metabolism, Inborn Errors; Pyruvate Kinase	1972
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
Disorders of folate metabolism. Disease-a-month : DM, 1972 Topics: Clinical Laboratory Techniques; Diet; Female; Folic Acid; Folic Acid Antagonists; Folic Acid Deficiency; Histidine; Humans; Male; Metabolism, Inborn Errors; Pregnancy; Purines	1972
Congenital isolated defect of folic acid absorption. The Journal of pediatrics, 1973, Volume: 82, Issue:3 Topics: Administration, Oral; Anemia, Macrocytic; Child; Consanguinity; Female; Folic Acid; Folic Acid Deficiency; Humans; Injections, Intramuscular; Intestinal Absorption; Leucovorin; Metabolism, Inborn Errors; Recurrence; Stomatitis; Vitamin B 12; Yeast, Dried	1973
Increase in serum folate following on oral histidine load. The Tohoku journal of experimental medicine, 1972, Volume: 108, Issue:3 Topics: Administration, Oral; Adolescent; Adult; Child; Female; FIGLU Test; Folic Acid; Formamides; Histidine; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Skin; Syphilis Serodiagnosis; Syphilis, Congenital; Transferases	1972
[Primary hemochromatosis and folate deficiency]. La Nouvelle presse medicale, 1973, Mar-10, Volume: 2, Issue:10 Topics: Anemia, Macrocytic; Folic Acid; Folic Acid Deficiency; Hemochromatosis; Iron; Metabolism, Inborn Errors	1973
[Primary disorder of folic acid metabolism]. Nihon rinsho. Japanese journal of clinical medicine, 1973, Aug-10, Volume: 31, Issue:8 Topics: Adult; Brain; Female; Folic Acid; Humans; Hydrolases; Infant; Male; Metabolism, Inborn Errors; Methyltransferases	1973
[Congenital abnormality of folate metabolism]. Naika. Internal medicine, 1971, Volume: 27, Issue:3 Topics: Folic Acid; Folic Acid Deficiency; History, 20th Century; Humans; Japan; Metabolism, Inborn Errors	1971
Hereditary deficiency of peroxidase and phospholipids in eosinophilic granulocytes. Acta haematologica, 1969, Volume: 41, Issue:6 Topics: Anemia; Child, Preschool; Deficiency Diseases; Eosinophils; Female; Folic Acid; Humans; Iron; Metabolism, Inborn Errors; Pedigree; Peroxidases; Phospholipids	1969
[Folic acid deficiency in congenital disorders]. Nederlands tijdschrift voor geneeskunde, 1972, Jul-08, Volume: 116, Issue:28 Topics: Congenital Abnormalities; Folic Acid; Humans; Infant, Newborn; Metabolism, Inborn Errors	1972
Dietary stimulation of sucrase in a patient with sucrase-isomaltase deficiency. Biochemical medicine, 1972, Volume: 6, Issue:5 Topics: Adult; Child; Dietary Carbohydrates; Disaccharides; Enzyme Induction; Feces; Female; Folic Acid; Fructose; Glycoside Hydrolases; Humans; Jejunum; Male; Metabolism, Inborn Errors; Pyruvate Kinase; Sucrase	1972
[Congenital anomaly of folic acid metabolism]. Nihon Shonika Gakkai zasshi. Acta paediatrica Japonica, 1971, Feb-01, Volume: 75, Issue:2 Topics: Animals; Brain Chemistry; Brain Diseases; DNA; Folic Acid; Folic Acid Deficiency; Humans; Infant; Metabolism, Inborn Errors; Rats; RNA	1971
Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency. The Tohoku journal of experimental medicine, 1967, Volume: 93, Issue:1 Topics: Adult; Aged; Anemia, Macrocytic; Biological Assay; Blood Proteins; Bone Marrow Examination; Cerebral Ventriculography; Child; Child, Preschool; Dietary Fats; Electroencephalography; Erythrocytes; Female; FIGLU Test; Folic Acid; Humans; Hydrolases; Infant; Intellectual Disability; Intestinal Absorption; Liver; Liver Function Tests; Male; Metabolism, Inborn Errors; Middle Aged; Oxidoreductases; Transferases; Vitamin B 12; Xylose	1967
Formiminotransferase deficiency syndrome associated with megaloblastic anemia responsive to pyridoxine or folic acid. The Tohoku journal of experimental medicine, 1968, Volume: 94, Issue:1 Topics: Anemia, Macrocytic; Blood Cell Count; Bone Marrow Examination; Cerebral Ventriculography; Erythrocytes; FIGLU Test; Folic Acid; Humans; Infant; Infusions, Parenteral; Injections, Intramuscular; Liver; Male; Metabolism, Inborn Errors; Pyridoxal Phosphate; Tetrahydrofolate Dehydrogenase; Transferases; Tryptophan	1968
Inborn errors of folic acid metabolism. Regulation of the interconversion of active derivatives of folic acid. Minnesota medicine, 1971, Volume: 54, Issue:6 Topics: Animals; Cattle; Chemical Phenomena; Chemistry; Folic Acid; Leucovorin; Ligases; Lyases; Metabolism, Inborn Errors; Tetrahydrofolate Dehydrogenase	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
[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
Congenital defects in folate utilization. The American journal of medicine, 1970, Volume: 48, Issue:5 Topics: Anemia, Macrocytic; Animals; Brain Damage, Chronic; Carbon Dioxide; Deficiency Diseases; Female; Folic Acid; Folic Acid Deficiency; Humans; Infant; Intellectual Disability; Male; Metabolism, Inborn Errors; Transferases	1970
The influence of adenine on the clinical features and purine metabolism in the Lesch-Nyhan syndrome. Acta paediatrica Scandinavica, 1970, Volume: 59, Issue:3 Topics: Adenine; Allopurinol; Athetosis; Bone Marrow; Carbon Isotopes; Child; Child, Preschool; Chorea; Compulsive Behavior; Diet Therapy; Erythrocytes; Folic Acid; Glycine; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Movement Disorders; Purines; Self Mutilation; Transferases; Uric Acid; Vitamin B 12	1970
Folic acid and mental illness. Southern medical journal, 1970, Volume: 63, Issue:5 Topics: Age Factors; Aged; Anticonvulsants; Barbiturates; Contraceptives, Oral; Female; Folic Acid; Humans; Intellectual Disability; Mental Disorders; Metabolism, Inborn Errors; Postpartum Period; Pregnancy	1970
Inborn errors in folate metabolism--a cause of mental retardation? Annals of internal medicine, 1968, Volume: 68, Issue:4 Topics: Adult; Biological Assay; Diet Therapy; Female; FIGLU Test; Folic Acid; Folic Acid Deficiency; Humans; Hydrolases; Infant, Newborn; Intellectual Disability; Lactobacillus; Male; Metabolism, Inborn Errors; Pregnancy; Tetrahydrofolate Dehydrogenase; Transferases; Vitamin B 12 Deficiency	1968
14CO2 in expired air after radioactive histidine injection in formiminotransferase deficiency syndrome. The Tohoku journal of experimental medicine, 1968, Volume: 96, Issue:4 Topics: Carbon Dioxide; Carbon Isotopes; Child, Preschool; Folic Acid; Glutamates; Histidine; Humans; Infant; Injections, Intravenous; Male; Metabolism, Inborn Errors; Respiration; Transferases	1968
Physiological significance of glycine cleavage system in human liver as revealed by the study of a case of hyperglycinemia. Biochemical and biophysical research communications, 1969, May-22, Volume: 35, Issue:4 Topics: Adult; Carbon Dioxide; Carbon Isotopes; Female; Folic Acid; Glycine; Humans; Infant; L-Serine Dehydratase; Liver; Metabolism, Inborn Errors; Serine; Transferases	1969
[Inborn error of folic acid metabolism---its recognition and further research development]. Saishin igaku. Modern medicine, 1969, Volume: 24, Issue:6 Topics: Animals; Child; Electroencephalography; Female; FIGLU Test; Folic Acid; Folic Acid Deficiency; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Pregnancy	1969
Formiminotransferase-deficiency syndrome: a new inborn error of folic acid metabolism. Annales paediatrici. International review of pediatrics, 1965, Volume: 205, Issue:1 Topics: Bone Marrow Cells; Chromosomes; Female; FIGLU Test; Folic Acid; Growth; Humans; Infant; Intellectual Disability; Liver; Liver Function Tests; Metabolism, Inborn Errors; Tetrahydrofolate Dehydrogenase; Transferases	1965
Mental retardation with hyperfolic-acidemia not associated with formiminoglutamic-acciduria: cyclohydrolase deficiency syndrome. The Tohoku journal of experimental medicine, 1966, Apr-25, Volume: 88, Issue:4 Topics: Child, Preschool; Erythrocytes; Female; FIGLU Test; Folic Acid; Humans; Infant; Intellectual Disability; Liver; Male; Metabolism, Inborn Errors; Transferases	1966
Aminoimidazolecarboxamide ribotide (AICAR)-transformylase of erythrocytes in formiminotransferase deficiency syndrome. The Tohoku journal of experimental medicine, 1966, Feb-25, Volume: 88, Issue:2 Topics: Child, Preschool; Erythrocytes; Folic Acid; Formates; Humans; Infant; Metabolism, Inborn Errors; Purines; Transferases	1966
Urinary AICA (4-amino-5-imidazolecarboxamide) following an oral dose of AICA in formiminotransferase deficiency syndrome. The Tohoku journal of experimental medicine, 1966, Feb-25, Volume: 88, Issue:2 Topics: Amides; FIGLU Test; Folic Acid; Formates; Humans; Imidazoles; Infant; Metabolism, Inborn Errors; Purines; Transferases	1966
Erythrocyte formiminotransferase activity in formiminotransferase deficiency syndrome. The Tohoku journal of experimental medicine, 1966, Mar-25, Volume: 88, Issue:3 Topics: Blood Cell Count; Blood Chemical Analysis; Child; Child, Preschool; Erythrocytes; Female; FIGLU Test; Folic Acid; Formates; Humans; Infant; Male; Metabolism, Inborn Errors; Purines; Transferases	1966
Folate metabolism in homocystinuria. Irish journal of medical science, 1966, Volume: 6, Issue:491 Topics: Child; Cystinuria; Female; Folic Acid; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors	1966