Neurodegeneration in D-bifunctional protein deficiency: Diagnostic clues and natural history using serial magnetic resonance imaging

Neuroradiology

Volumn 52, Issue 12, 2010, Pages 1163-1166

  Khan, Aneal ^e   Wei, Xing Chang ^a   Snyder, Floyd F ^b   Mah, Jean K ^c   Waterham, Hans ^d   Wanders, Ronald J A ^d  

^a UNIVERSITY OF CALGARY   (Canada)

^b ALBERTA CHILDREN'S HOSPITAL   (Canada)

^c UNIVERSITY OF CALGARY   (Canada)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

^e NONE

Author keywords

D bifunctional protein deficiency; Magnetic resonance imaging; Peroxisomal disease; White matter disease

Indexed keywords

CHOLINE; N ACETYLASPARTIC ACID; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ARTICLE; BREATHING DISORDER; CASE REPORT; CEREBRAL BLINDNESS; CHERRY RED SPOT; CHILD; D BIFUNCTIONAL PROTEIN DEFICIENCY; DEMYELINATION; DISEASE COURSE; DISORDERS OF PEROXISOMAL FUNCTIONS; FATTY ACID BLOOD LEVEL; FATTY ACID OXIDATION; FOCAL EPILEPSY; HEARING IMPAIRMENT; HUMAN; IMMUNOFLUORESCENCE; MALE; MEDICAL HISTORY; NERVE DEGENERATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PSYCHOMOTOR RETARDATION; QUADRIPLEGIA; RETINOPATHY; SCHOOL CHILD; SKIN FIBROBLAST; WHITE MATTER;

17-HYDROXYSTEROID DEHYDROGENASES; BRAIN; CHILD; CHILD, PRESCHOOL; HUMANS; HYDRO-LYASES; INFANT; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MALE; NEURODEGENERATIVE DISEASES; PEROXISOMAL DISORDERS;

EID: 78650035851     PISSN: 00283940     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00234-010-0768-4     Document Type: Article

References (5)

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