Biotinidase deficiency: A treatable leukoencephalopathy

Neuropediatrics

Volumn 35, Issue 4, 2004, Pages 211-216

  Grünewald, Stephanie ^a,b   Champion, M P ^c   Leonard, J V ^b   Schaper, J ^d   Morris, A A M ^b,e  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^e ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Atrophy; Biotinidase deficiency; Leukoencephalopathy; White matter changes

Indexed keywords

BIOTIN; BIOTINIDASE;

ANAMNESIS; AUTOSOMAL RECESSIVE INHERITANCE; BIOTINIDASE DEFICIENCY; BRAIN ATROPHY; BRAIN CYST; BRAIN CYSTIC DEGENERATION; BRAIN SIZE; BRAIN VENTRICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM; DIFFUSION WEIGHTED IMAGING; FOLLOW UP; HUMAN; INFANT; LEUKOENCEPHALOPATHY; MYELINATION; NEUROIMAGING; NEUROLOGIC DISEASE; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; REVIEW; TREATMENT OUTCOME; UNITED KINGDOM; WHITE MATTER;

BIOTINIDASE DEFICIENCY; BRAIN; BRAIN DISEASES; FOLLOW-UP STUDIES; HUMANS; INFANT; LACTIC ACID; MALE; RETROSPECTIVE STUDIES;

EID: 4544353952     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-821080     Document Type: Review

References (20)

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