A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 54-61

  Yang, Chia Feng ^a   Liu, Hao Chuan ^a   Hsu, Ting Rong ^a,b   Tsai, Fang Chih ^a   Chiang, Sheng Fong ^a   Chiang, Chuan Chi ^c   Ho, Hui Chen ^d   Lai, Chih Jou ^a   Yang, Tsui Feng ^a   Chuang, Sung Yin ^a   Lin, Ching Yuang ^e   Niu, Dau Ming ^a,b  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c Chinese Foundation of Health Neonatal Screening Center   (Taiwan)

^d Taipei Institute of Pathology   (Taiwan)

^e CHINA MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Acid glucosidase; Enzyme replacement therapy; Infantile onset Pompe disease; Newborn screening

Indexed keywords

ALPHA GLUCOSIDASE; CREATINE KINASE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; CLINICAL ARTICLE; DRIED BLOOD SPOT TESTING; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH PROGRAM; HEART LEFT VENTRICLE MASS; HUMAN; INFANT; MALE; MUSCLE HYPOTONIA; NEWBORN; NEWBORN SCREENING; ONSET AGE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TAIWAN; ALGORITHM; BLOOD; GENETICS; GLYCOGEN STORAGE DISEASE TYPE II; MASS SCREENING; PUBLIC HEALTH;

ALGORITHMS; ALPHA-GLUCOSIDASES; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; MALE; MASS SCREENING; NATIONAL HEALTH PROGRAMS; NEONATAL SCREENING; TAIWAN;

EID: 84890786429     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36197     Document Type: Article

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