At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.

Lukacs, Zoltan; Oliva, Petra; Nieves Cobos, Paulina; Scott, Jacob; Mechtler, Thomas P; Kasper, David C

Lukacs, Zoltan; Oliva, Petra; Nieves Cobos, Paulina; Scott, Jacob; Mechtler, Thomas P; Kasper, David C.

Afiliação

Lukacs Z; Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center, 20251 Hamburg, Germany.
Oliva P; ARCHIMED Life Science GmbH, 1110 Vienna, Austria.
Nieves Cobos P; Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center, 20251 Hamburg, Germany.
Scott J; ARCHIMED Life Science GmbH, 1110 Vienna, Austria.
Mechtler TP; ARCHIMED Life Science GmbH, 1110 Vienna, Austria.
Kasper DC; ARCHIMED Life Science GmbH, 1110 Vienna, Austria.

Int J Neonatal Screen ; 6(4)2020 Dec 21.

Article em En | MEDLINE | ID: mdl-33371305

Palavras-chave

Pompe disease; Pompe disease diagnostics testing; dried blood spots; newborn screening

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies / Screening_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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