Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1049-1053

  Moat, Stuart J ^a   Bradley, Donald M ^a   Salmon, Rachel ^a   Clarke, Angus ^a   Hartley, Louise ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

bloodspots; creatine kinase; Duchenne muscular dystrophy; false negatives; newborn screening

Indexed keywords

CREATINE KINASE;

ARTICLE; BECKER MUSCULAR DYSTROPHY; BLOOD; BLOODSPOT; DUCHENNE MUSCULAR DYSTROPHY; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FALSE POSITIVE RESULT; FEMALE; FOLLOW UP; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; NEWBORN; NEWBORN SCREENING; PARENT; PARENTAL CONSENT; PREDICTIVE VALUE; PRIORITY JOURNAL; SARCOGLYCANOPATHY; UNITED KINGDOM;

CREATINE KINASE; GENETIC TESTING; GENOTYPING TECHNIQUES; HUMANS; INFANT, NEWBORN; MALE; MUSCULAR DYSTROPHY, DUCHENNE; NEONATAL SCREENING; SENSITIVITY AND SPECIFICITY; WALES;

EID: 84884588696     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.301     Document Type: Article

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