Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: A new genetic disease?

European Journal of Pediatrics

Volumn 155, Issue 5, 1996, Pages 398-403

  Mayatepek, E ^a   Hoffmann, G F ^a,d   Baumgartner, R ^b   Schulze, A ^a   Jakobs, C ^c   Trefz, F K ^a,e   Bremer, H J ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d University Children's Hospital   (Germany)

^e Kreiskrankenhaus Reutlingen   (Germany)

Author keywords

Cerebrospinal fluid; Encephalomyelopathy; GABA; Methylmalonic aciduria; Vitamin B12

Indexed keywords

CYANOCOBALAMIN; HYDROXOCOBALAMIN; METHYLMALONYL COENZYME A MUTASE; METHYLMALONIC ACID;

ARTICLE; BRAIN DISEASE; CASE REPORT; CELL CULTURE; CHILD; DISEASE COURSE; ENCEPHALOMYELOPATHY; FATALITY; FEMALE; GENETICS; HUMAN; MALE; METHYLMALONIC ACIDURIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SIBLING; SYMPTOMATOLOGY; CEREBROSPINAL FLUID; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FIBROBLAST; METABOLISM; NUCLEAR FAMILY; PRESCHOOL CHILD; SPINAL CORD DISEASE; URINE;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FATAL OUTCOME; FEMALE; FIBROBLASTS; HUMANS; MALE; METHYLMALONIC ACID; NUCLEAR FAMILY; SPINAL CORD DISEASES; VITAMIN B 12;

EID: 0029665972     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf01955272     Document Type: Article

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