Metachromatic leukodystrophy: A case of triplets with the late infantile variant and a systematic review of the literature

Journal of Child Neurology

Volumn 25, Issue 5, 2010, Pages 572-580

  Mahmood, Asif ^a   Berry, Jay ^b   Wenger, David A ^c   Escolar, Maria ^d   Sobeih, Magdi ^e   Raymond, Gerald ^f   Eichler, Florian S ^g  

^a University of Texas Medical Branch School of Medicine   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d UNIVERSITY OF NORTH CAROLINA   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f KENNEDY KRIEGER INSTITUTE   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Arylsulfatase A; Demyelination; Lysosome; Metachromatic leukodystrophy

Indexed keywords

CEREBROSIDE SULFATASE;

CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; ENZYME ACTIVITY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INFANT; METACHROMATIC LEUKODYSTROPHY; MULTIPLE PREGNANCY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SURVIVAL RATE; SURVIVAL TIME; SYSTEMATIC REVIEW;

ADULT; AGE OF ONSET; BRAIN; DISEASE PROGRESSION; HUMANS; INFANT; LEUKODYSTROPHY, METACHROMATIC; SEX FACTORS; TRIPLETS;

EID: 77953094792     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809341669     Document Type: Review

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