Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations

Developmental Medicine and Child Neurology

Volumn 48, Issue 5, 2006, Pages 383-387

  Anlar, Banu ^a   Waye, John S ^b   Eng, Barry ^c   Oguz, Kader Karli ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b MCMASTER UNIVERSITY   (Canada)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; MYELIN;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL FEATURE; DISEASE COURSE; ENCEPHALOMYELITIS; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HEMIPARESIS; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; NERVE CONDUCTION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; REMISSION; WHITE MATTER;

ACYCLOVIR; ALLELES; ANTIVIRAL AGENTS; BASE SEQUENCE; BRAIN; CEREBROSIDE-SULFATASE; CHILD; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ENCEPHALOMYELITIS, ACUTE DISSEMINATED; FEMALE; GENE DELETION; GENE EXPRESSION; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; POINT MUTATION;

EID: 33645783742     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1017/S001216220600082X     Document Type: Article

References (9)

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