Enzymatic and molecular strategies to diagnose Pompe disease

Expert Opinion on Medical Diagnostics

Volumn 4, Issue 1, 2010, Pages 79-89

  Reuser, A J J ^a   Verheijen, F W ^a   Kroos, M A ^a   Okumiya, T ^b   Van Diggelen, O P ^a   Van Der Ploeg, A T ^a   Halley, D J J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b KUMAMOTO UNIVERSITY   (Japan)

Author keywords

A glucosidase; Acid maltase deficiency; Diagnosis; Glycogen storage disease type II; Glycogenosis; Lysosomal storage disorder; Neuromuscular disorder; Newborn screening; Pompe disease

Indexed keywords

DNA;

DNA DETERMINATION; ENZYME ASSAY; GENETIC COUNSELING; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH CARE PERSONNEL; HUMAN; NEWBORN SCREENING; REVIEW;

EID: 77953454380     PISSN: 17530059     EISSN: 17530067     Source Type: Journal    
DOI: 10.1517/17530050903460300     Document Type: Review

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