Diagnosing lysosomal storage disorders: Mucopolysaccharidosis type II

Current Protocols in Human Genetics

Volumn , Issue SUPPL.79, 2013, Pages

  Johnson, Britt A ^a   van Diggelen, Otto P ^b,c   Dajnoki, Angela ^a   Bodamer, Olaf A ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Alpha iduronate 2 sulfatase; Dried blood spot; Fluorometry; Glycosaminoglycans; Hunter syndrome; MPS II; Mucopolysaccharide; Mucopolysaccharidosis type II

Indexed keywords

IDURONATE 2 SULFATASE;

ADULT; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; ENZYME ANALYSIS; FLUOROMETRY; HUMAN; HUNTER SYNDROME; MALE; METHODOLOGY; NEWBORN; PRIORITY JOURNAL;

EID: 84896371166     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg1714s79     Document Type: Article

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