Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots.

Gelb, Michael H; Lukacs, Zoltan; Ranieri, Enzo; Schielen, Peter C J I

Gelb, Michael H; Lukacs, Zoltan; Ranieri, Enzo; Schielen, Peter C J I.

Afiliación

Gelb MH; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA.
Lukacs Z; Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center, Hamburg, Germany.
Ranieri E; Head Biochemical Genetics, Directorate of Genetics & Molecular Pathology, SAPathology at the Women's & Children's Hospital, South Australia.
Schielen PCJI; Head Reference Laboratory for Neonatal Screening, Center for Health Protection, National Institute for Public Health and the Environment (RIVM), P. O. Box 1, 3720 BA Bilthoven, The Netherlands.

Int J Neonatal Screen ; 5(1)2019 Mar.

Article en En | MEDLINE | ID: mdl-30957052

Palabras clave

cutoff values; diagnosis; dried blood spots; enzymatic activity assays; lysosomal storage diseases; newborn screening; tandem mass spectrometry

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

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