Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program

Molecular Genetics and Metabolism

Volumn 106, Issue 3, 2012, Pages 281-286

  Chiang, Shu Chuan ^a   Hwu, Wuh Liang ^a   Lee, Ni Chung ^a   Hsu, Li Wen ^a   Chien, Yin Hsiu ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Alpha glucosidase; Dried blood spot testing; Lysosomal storage disease; Newborn screening; Pompe disease

Indexed keywords

ALPHA GALACTOSIDASE; C REACTIVE PROTEIN; GLUCAN 1,4 ALPHA GLUCOSIDASE; HYMECROMONE GLUCURONIDE; I KAPPA B;

ACCURACY; ALGORITHM; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; FABRY DISEASE; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FLUORESCENCE; GENE EXPRESSION; GENE FREQUENCY; GESTATIONAL AGE; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH PROGRAM; HUMAN; LEUKOCYTE; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; REPRODUCIBILITY; RETROSPECTIVE STUDY; TAIWAN; UPREGULATION;

ALGORITHMS; ALPHA-GALACTOSIDASE; ALPHA-GLUCOSIDASES; BASE SEQUENCE; GLUCOSIDES; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; HYMECROMONE; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; NEONATAL SCREENING; REPRODUCIBILITY OF RESULTS; TAIWAN;

EID: 84862539847     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.04.013     Document Type: Article

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