Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI.

Ames, Elizabeth G; Fisher, Rachel; Kleyn, Mary; Ahmad, Ayesha

Ames, Elizabeth G; Fisher, Rachel; Kleyn, Mary; Ahmad, Ayesha.

Afiliação

Ames EG; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI 48109, USA.
Fisher R; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI 48109, USA.
Kleyn M; Newborn Screening Follow-up Section, Michigan Department of Health and Human Services, 333 South Grand Avenue, Lansing, MI 48933, USA.
Ahmad A; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, D5240 Medical Professional Building, 1500 E. Medical Center Dr, Ann Arbor, MI 48109, USA.

Int J Neonatal Screen ; 6(3)2020 Sep 02.

Article em En | MEDLINE | ID: mdl-33239598

Palavras-chave

Hurler syndrome; Hurler-Scheie syndrome; IOPD; LOPD; Lysosomal storage disease; MPSI; NBS; early diagnosis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos

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