Biochemical profiling to predict disease severity in metachromatic leukodystrophy

Molecular Genetics and Metabolism

Volumn 99, Issue 2, 2010, Pages 142-148

  Tan, M A F ^a,b,c   Fuller, M ^a,b   Zabidi Hussin, Z A M H ^c   Hopwood, J J ^a,b   Meikle, P J ^a,b  

^a Lysosomal Diseases Research Unit   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c SCHOOL OF MEDICAL SCIENCES   (Malaysia)

Author keywords

Mass spectrometry; Skin fibroblasts; Sulfatide; Urine

Indexed keywords

ARYLSULFATASE; CEREBROSIDE SULFATASE;

ADULT; ARTICLE; BIOCHEMISTRY; CASE REPORT; CELL CULTURE; CHILD; COHORT ANALYSIS; DIAGNOSTIC ACCURACY; DISEASE COURSE; DISEASE SEVERITY; DNA FINGERPRINTING; ELECTROSPRAY MASS SPECTROMETRY; ENZYME ACTIVITY; FEMALE; HEREDITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOASSAY; MALE; METACHROMATIC LEUKODYSTROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN FIBROBLAST; URINALYSIS;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CELL LINE; CEREBROSIDE-SULFATASE; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; INFANT; LEUKODYSTROPHY, METACHROMATIC; LYSOPHOSPHOLIPIDS; MALE; MIDDLE AGED; MONOGLYCERIDES; SEVERITY OF ILLNESS INDEX; SKIN; SULFOGLYCOSPHINGOLIPIDS;

EID: 73749084254     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.09.006     Document Type: Article

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