Genetic defects in folate and cobalamin pathways affecting the brain

Clinical Chemistry and Laboratory Medicine

Volumn 51, Issue 1, 2013, Pages 139-155

  Kirsch, Susanne H ^a   Herrmann, Wolfgang ^a   Obeid, Rima ^a  

^a SAARLAND UNIVERSITY   (Germany)

Author keywords

Brain; Cobalamin; Folate

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE; COBALAMIN; COBALAMIN ADENOSYLTRANSFERASE; CYANOCOBALAMIN; DNA; FOLATE RECEPTOR; FOLIC ACID; FOLINIC ACID; FORMIMINOTRANSFERASE CYCLODEAMINASE; GLUTAMATE FORMIMINOTRANSFERASE; HAPTOCORRIN; HOMOCYSTEINE; HYDROXOCOBALAMIN; INTRINSIC FACTOR; LMBR1 DOMAIN CONTAINING PROTEIN 1; METHIONINE; METHIONINE SYNTHASE REDUCTASE; METHYL GROUP; METHYLMALONIC ACID; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE C PROTEIN; METHYLMALONIC ACIDURIA TYPE A PROTEIN; METHYLMALONYL COENZYME A MUTASE; PROTEIN; PROTON COUPLED FOLATE TRANSPORTER; PYRIDOXINE; S ADENOSYLMETHIONINE; TETRAHYDROFOLIC ACID; UNCLASSIFIED DRUG; VITAMIN B GROUP;

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; AMINO ACID SUBSTITUTION; ANEMIA; BRAIN DEVELOPMENT; CEREBRAL FOLATE DEFICIENCY; CHEMICAL INTERACTION; CLINICAL FEATURE; COBALAMIN A DEFICIENCY; COBALAMIN B DEFICIENCY; COBALAMIN C DEFICIENCY; COBALAMIN D DEFICIENCY; COBALAMIN E DEFICIENCY; COBALAMIN F DEFICIENCY; COBALAMIN G DEFICIENCY; CONGENITAL GASTRIC INTRINSIC FACTOR DEFICIENCY; CONGENITAL TRANSCOBALAMIN DEFICIENCY; CYANOCOBALAMIN DEFICIENCY; DIETARY INTAKE; DISEASE SEVERITY; DNA SYNTHESIS; DRUG MEGADOSE; ENZYME DEFICIENCY; FAILURE TO THRIVE; FOLIC ACID DEFICIENCY; FOOD INTAKE; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY; HAPTOCORRIN DEFICIENCY; HEREDITARY FOLATE MALABSORPTION; HUMAN; IMERSLUND GRASBECK SYNDROME; JUVENILE MEGALOBLASTIC ANEMIA; LEG CRAMP; MALABSORPTION; MEAT; MEGALOBLASTIC ANEMIA; MENTAL DISEASE; METABOLIC ENCEPHALOPATHY; METHYLMALONIC ACIDURIA; METHYLMALONYL COENZYME A MUTASE DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEURAL TUBE DEFECT; NEUROLOGIC DISEASE; NEUROTOXICITY; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RECURRENT INFECTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN DEFICIENCY; VITAMIN METABOLISM; VITAMIN SUPPLEMENTATION;

ANIMALS; BRAIN; FOLIC ACID; HUMANS; METABOLIC NETWORKS AND PATHWAYS; MUTATION; VITAMIN B 12;

EID: 84872899675     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/cclm-2012-0673     Document Type: Review

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