Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots

Molecular Genetics and Metabolism

Volumn 103, Issue 1, 2011, Pages 12-17

  Shigeto, Shohei ^a   Katafuchi, Tatsuya ^a   Okada, Yuya ^a   Nakamura, Kimitoshi ^a   Endo, Fumio ^b   Okuyama, Torayuki ^b   Takeuchi, Hiroaki ^c   Kroos, Marian A ^d   Verheijen, Frans W ^d   Reuser, Arnold J J ^d   Okumiya, Toshika ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c KOCHI MEDICAL SCHOOL   (Japan)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Acid glucosidase; Acid maltase; Dried blood spot; Genetic polymorphism; Glycogen storage disease type II; Newborn screening; Pompe disease

Indexed keywords

4 METHYLUMBELLIFERYL ALPHA DEXTRO GLUCOPYRANOSIDE; ALPHA GLUCOSIDASE; BARIUM DERIVATIVE; BARIUM HYDROXIDE; GLUCOPYRANOSIDE; HEMOGLOBIN; HYMECROMONE; TRICHLOROACETIC ACID; UNCLASSIFIED DRUG; ZINC SULFATE;

ACID ALPHA GLUCOSIDASE PSEUDODEFICIENCY; ARTICLE; BIOASSAY; BLOOD ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DRIED BLOOD SPOT; ENZYME ACTIVITY; ENZYME DEFECT; FIBROBLAST; FLUORESCENCE ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAPANESE; NEWBORN; POPULATION RESEARCH; PRIORITY JOURNAL;

ADULT; ALPHA-GLUCOSIDASES; CHILD; CLINICAL ENZYME TESTS; FIBROBLASTS; GLYCOGEN STORAGE DISEASE TYPE II; HEMATOLOGIC TESTS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; NEONATAL SCREENING;

EID: 79955138610     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.01.006     Document Type: Article

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