A pilot newborn screening program for Mucopolysaccharidosis type i in Taiwan

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Lin, Shuan Pei ^a,d,e   Lin, Hsiang Yu ^a,d,e,g   Wang, Tuen Jen ^a,f   Chang, Chia Ying ^a   Lin, Chia Hui ^a   Huang, Sung Fa ^a,f   Tsai, Chia Chen ^a   Liu, Hsuan Liang ^b   Keutzer, Joan ^h   Chuang, Chih Kuang ^a,b,c  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b NATIONAL TAIPEI UNIVERSITY OF TECHNOLOGY   (Taiwan)

^c FU JEN CATHOLIC UNIVERSITY   (Taiwan)

^d NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^e MACKAY MEDICAL COLLEGE   (Taiwan)

^f TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^g NATIONAL YANG MING UNIVERSITY   (Taiwan)

^h GENZYME CORPORATION   (United States)

Author keywords

L iduronidase; Dried blood spots; Mucopolysaccharidosis type I; Newborn screening

Indexed keywords

DNA; LEVO IDURONIDASE;

ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; FLUOROMETRY; HUMAN; HUMAN TISSUE; HURLER SYNDROME; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PILOT STUDY; POINT MUTATION; POLYMERASE CHAIN REACTION; TAIWAN; TWO DIMENSIONAL ELECTROPHORESIS;

FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUCOPOLYSACCHARIDOSIS I; NEONATAL SCREENING; TAIWAN;

EID: 84884315786     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-147     Document Type: Article

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