Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

Annals of Neurology

Volumn 59, Issue 2, 2006, Pages 394-398

  Pineda, Merce ^a,d   Ormazabal, Aida ^a   López Gallardo, Esther ^b   Nascimento, Andres ^a   Solano, Abelardo ^b   Herrero, Maria D ^b   Vilaseca, Maria A ^a   Briones, Paz ^c   Ibáñez, Lourdes ^a   Montoya, Julio ^b   Artuch, Rafael ^a  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c CSIC   (Spain)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 5 METHYLTETRAHYDROFOLIC ACID; ALANINE; BIOPTERIN; CARNITINE; CYTOCHROME B; FOLINIC ACID; HOMOVANILLIC ACID; LACTIC ACID; MITOCHONDRIAL DNA; NEOPTERIN; PYRUVIC ACID;

ARTICLE; BLOOD BRAIN BARRIER; CASE REPORT; CEREBRAL FOLATE DEFICIENCY; CEREBROSPINAL FLUID ANALYSIS; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; COORDINATION DISORDER; DNA ISOLATION; ELECTROCHEMICAL DETECTION; ELECTROENCEPHALOGRAPHY; ELECTRORETINOGRAPHY; FATIGUE; FIBROBLAST; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; GAIT DISORDER; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERHOMOCYSTEINEMIA; KEARNS SAYRE SYNDROME; LEUKOENCEPHALOPATHY; MALE; MEGALOBLASTIC ANEMIA; MITOCHONDRIAL DNA DISORDER; MONOTHERAPY; MUSCLE BIOPSY; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OXIDATIVE PHOSPHORYLATION; PEARSON SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REFERENCE VALUE; SCHOOL CHILD; SOUTHERN BLOTTING; TENDON REFLEX; VITAMIN SUPPLEMENTATION; WHITE MATTER;

BRAIN CHEMISTRY; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FOLIC ACID; FOLIC ACID DEFICIENCY; GENE DELETION; HUMANS; KEARNS-SAYER SYNDROME; MAGNETIC RESONANCE IMAGING; MALE; MUSCLES;

EID: 32044475137     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20746     Document Type: Article

References (18)

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