The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives

Molecular Genetics and Metabolism

Volumn 104, Issue 1-2, 2011, Pages 144-148

  Reuser, Arnold J ^a   Verheijen, Frans W ^a   Bali, Deeksha ^b   van Diggelen, Otto P ^a   Germain, Dominique P ^c   Hwu, Wuh Liang ^d   Lukacs, Zoltan ^e   Mühl, Adolf ^f   Olivova, Petra ^g   Piraud, Monique ^h   Wuyts, Birgit ⁱ   Zhang, Kate ^g   Keutzer, Joan ^g  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f CENTOGENE AG   (Germany)

^g GENZYME CORPORATION   (United States)

^h HOSPICES CIVILS DE LYON   (France)

ⁱ GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Dried blood spot analysis; Lysosomal storage disease; Newborn screening

Indexed keywords

ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; DIAGNOSTIC ACCURACY; DRIED BLOOD SPOT ANALYSIS; HIGH RISK POPULATION; HUMAN; LABORATORY TEST; LYSOSOME STORAGE DISEASE; NEWBORN SCREENING; PRIORITY JOURNAL; QUALITY CONTROL;

DRIED BLOOD SPOT TESTING; HUMANS; LYSOSOMAL STORAGE DISEASES; QUALITY CONTROL; REFERENCE STANDARDS; RESEARCH REPORT;

EID: 80052542637     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.07.014     Document Type: Article

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