Cerebral folate deficiency: A neurometabolic syndrome?

Molecular Genetics and Metabolism

Volumn 104, Issue 3, 2011, Pages 369-372

  Mangold, Sarah ^a   Blau, Nenad ^b,c,d   Opladen, Thomas ^e   Steinfeld, Robert ^f   Weßling, Britta ^a   Zerres, Klaus ^a   Häusler, Martin ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d Research Center for Children RCC   (Switzerland)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

Antiepileptics; Ataxia; Cerebral folate deficiency; Epilepsy; Mental retardation

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; FOLATE RECEPTOR 1; FOLINIC ACID;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CEREBRAL FOLIC ACID DEFICIENCY; CEREBROSPINAL FLUID ANALYSIS; CHILD; DISEASE DURATION; DISEASE SEVERITY; EPILEPSY; FEMALE; FOLIC ACID DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; METABOLIC SYNDROME X; MOTOR RETARDATION; NEUROLOGIC DISEASE; NEUROMETABOLIC SYNDROME; PEDIATRICS; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRAMIDAL TRACT; RETROSPECTIVE STUDY; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ATAXIA; CHILD; CHILD, PRESCHOOL; EPILEPSY; FEMALE; FOLIC ACID DEFICIENCY; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; PYRAMIDAL TRACTS; RETROSPECTIVE STUDIES; SYNDROME; TETRAHYDROFOLATES; YOUNG ADULT;

EID: 82455167843     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.06.004     Document Type: Article

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