Genetic causes of cerebral folate deficiency: Clinical, biochemical and therapeutic aspects

Drug Discovery Today

Volumn 17, Issue 23-24, 2012, Pages 1299-1306

  Serrano, Mercedes ^a   Pérez Dueñas, Belén ^a   Montoya, Julio ^a   Ormazabal, Aida ^a   Artuch, Rafael ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

10 FORMYLTETRAHYDROFOLIC ACID; 5 METHYLTETRAHYDROFOLIC ACID; 7,8 DIHYDROFOLIC ACID; AUTOANTIBODY; BETAINE; BIOGENIC AMINE; COBALAMIN; DIHYDROFOLATE REDUCTASE; FOLATE RECEPTOR; FOLATE RECEPTOR 1; FOLATE TRANSPORTER; FOLIC ACID; FOLIC ACID DERIVATIVE; FOLINIC ACID; GLYCINE HYDROXYMETHYLTRANSFERASE; HOMOCYSTEINE; METHIONINE; MITOCHONDRIAL DNA; PROTON COUPLED FOLATE TRANSPORTER; PYRIDOXINE; SERINE; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; AMINO ACID DEFICIENCY; CENTRAL NERVOUS SYSTEM; CEREBRAL FOLATE DEFICIENCY; CEREBROSPINAL FLUID LEVEL; CHOROID PLEXUS; CLASSIFICATION ALGORITHM; DIHYDROFOLATE REDUCTASE DEFICIENCY; DRUG DOSE INCREASE; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FOLATE METABOLISM; FOLIC ACID DEFICIENCY; GENE MUTATION; HEREDITY; HUMAN; INTESTINE ABSORPTION; KEARNS SAYRE SYNDROME; LABORATORY TEST; MALABSORPTION; METHYLATION; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MITOCHONDRIAL RESPIRATION; NEUROLOGIC DISEASE; OXIDATIVE PHOSPHORYLATION; PATHOPHYSIOLOGY; PROTEIN DEFICIENCY; PROTON COUPLED FOLATE TRANSPORTER DEFICIENCY; REVIEW; SERINE DEFICIENCY; TREATMENT RESPONSE;

BETAINE; CEREBRAL CORTEX; FOLIC ACID; FOLIC ACID DEFICIENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTESTINAL ABSORPTION; LEUCOVORIN; NERVOUS SYSTEM DISEASES; TETRAHYDROFOLATES;

EID: 84870320911     PISSN: 13596446     EISSN: 18785832     Source Type: Journal    
DOI: 10.1016/j.drudis.2012.07.008     Document Type: Review

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