A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Molecular Genetics and Metabolism

Volumn 88, Issue 1, 2006, Pages 22-28

  Okumiya, Toshika ^a,b   Keulemans, Joke L M ^a   Kroos, Marian A ^a   Van der Beek, Nadine M E ^a   Boer, Marijke A ^a   Takeuchi, Hiroaki ^c   Van Diggelen, Otto P ^a   Reuser, Arnold J J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b KUMAMOTO UNIVERSITY   (Japan)

^c KOCHI MEDICAL SCHOOL   (Japan)

Author keywords

Acid glucosidase; Acid maltase deficiency; Enzymatic diagnosis; Glycogen storage disease type II; Glycogenosis type II; Leukocytes; Lysosomal storage disease; Maltase glucoamylase; Pompe disease

Indexed keywords

ACARBOSE; ALPHA GLUCOSIDASE; GLUCOPYRANOSIDE; GLYCOGEN; HYMECROMONE;

ANALYTIC METHOD; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC TEST; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME SUBSTRATE; GLYCOGEN STORAGE DISEASE TYPE 2; HOMOZYGOTE; HUMAN; HUMAN CELL; MIXED LYMPHOCYTE REACTION; PH MEASUREMENT; PRIORITY JOURNAL; SEPARATION TECHNIQUE;

ACARBOSE; ALPHA-GLUCOSIDASES; GLUCAN 1,4-ALPHA-GLUCOSIDASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; HYDROGEN-ION CONCENTRATION; INFANT; LEUKOCYTES;

EID: 33646053147     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.10.016     Document Type: Article

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