Clinical Neurogenetics: Neuropathic Lysosomal Storage Disorders

Neurologic Clinics

Volumn 31, Issue 4, 2013, Pages 1051-1071

  Pastores, Gregory M ^a   Maegawa, Gustavo H B ^b  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Leukodystrophy; Lysosomal storage disorders; Myopathy; Stroke

Indexed keywords

CHAPERONE; LYSOSOME ENZYME; MIGALASTAT; MIGLUSTAT; MUTANT PROTEIN; RECOMBINANT ENZYME;

BLOOD BRAIN BARRIER; CEREBROVASCULAR ACCIDENT; DIAGNOSTIC IMAGING; DIET RESTRICTION; DIET SUPPLEMENTATION; DISEASE COURSE; DRUG DELIVERY SYSTEM; ENZYME DEFICIENCY; ENZYME REPLACEMENT; FABRY DISEASE; GAUCHER DISEASE; GENE THERAPY; GENETIC COUNSELING; GLOBOID CELL LEUKODYSTROPHY; GLYCOGEN STORAGE DISEASE TYPE 2; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HIGH RISK POPULATION; HUMAN GENETICS; HURLER SYNDROME; INBORN ERROR OF METABOLISM; LYSOSOME STORAGE DISEASE; MEDICAL CARE; NEUROGENETICS; NEUROLOGIC DISEASE; NEWBORN SCREENING; NIEMANN PICK DISEASE; OCCUPATIONAL THERAPY; PATHOGENESIS; PHYSICAL EXAMINATION; PHYSIOTHERAPY; POSITIVE END EXPIRATORY PRESSURE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; RISK REDUCTION; SLEEP DISORDERED BREATHING; SUBSTRATE REDUCTION THERAPY; SYMPTOM;

LEUKODYSTROPHY; LYSOSOMAL STORAGE DISORDERS; MYOPATHY; STROKE;

HUMANS; LYSOSOMAL STORAGE DISEASES;

EID: 84886407779     PISSN: 07338619     EISSN: 15579875     Source Type: Journal    
DOI: 10.1016/j.ncl.2013.04.007     Document Type: Review

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