Newborn screening for Pompe disease in Japan

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 560-565

  Oda, Eri ^a,b   Tanaka, Toju ^a   Migita, Ohsuke ^a   Kosuga, Motomichi ^a   Fukushi, Masaru ^c   Okumiya, Toshika ^d   Osawa, Makiko ^b   Okuyama, Torayuki ^a  

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

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c Sapporo City Institute of Public Health   (Japan)

^d KUMAMOTO UNIVERSITY   (Japan)

Author keywords

Acid alpha glucosidase; Dried blood spots; Genetic polymorphism; Newborn screening; Pompe disease

Indexed keywords

ACARBOSE; GLUCOSIDASE;

ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FALSE POSITIVE RESULT; FEASIBILITY STUDY; GENE FREQUENCY; GLYCOGEN STORAGE DISEASE TYPE 2; HOMOZYGOTE; HUMAN; INFANT; JAPAN; NEWBORN SCREENING; PH; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; ALPHA-GLUCOSIDASES; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DRIED BLOOD SPOT TESTING; ENZYME ASSAYS; GENE FREQUENCY; GLYCOGEN STORAGE DISEASE TYPE II; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MIDDLE AGED; NEONATAL SCREENING; REFERENCE VALUES; YOUNG ADULT;

EID: 82255175878     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.09.002     Document Type: Article

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