Identifying non-duchennemuscular dystrophy-positive and false negative results in prior duchenne muscular dystrophy newborn screening programs: A review

JAMA Neurology

Volumn 73, Issue 1, 2016, Pages 111-116

  Gatheridge, Michele A ^a   Kwon, Jennifer M ^a   Mendell, Jerry M ^b   Scheuerbrandt, Günter ^c   Moat, Stuart J ^d   Eyskens, François ^e   Rockman Greenberg, Cheryl ^f   Drousiotou, Anthi ^g   Griggs, Robert C ^a  

^a UNIVERSITY OF ROCHESTER   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c Cardiff University ^*  (Germany)

^d UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f UNIVERSITY OF MANITOBA   (Canada)

^g CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; CREATINE KINASE MM;

BECKER MUSCULAR DYSTROPHY; DMD GENE; DRIED BLOOD SPOT TESTING; DUCHENNE MUSCULAR DYSTROPHY; DYSFERLINOPATHY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FOLLOW UP; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; REVIEW; SARCOGLYCANOPATHY; WALKER WARBURG SYNDROME; GENETIC SCREENING; GENETICS; LABORATORY DIAGNOSIS; MALE; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, DUCHENNE; PROCEDURES; STANDARDS;

FALSE NEGATIVE REACTIONS; FALSE POSITIVE REACTIONS; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MALE; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, DUCHENNE; NEONATAL SCREENING;

EID: 84954204047     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2015.3537     Document Type: Review

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