Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots.

Hong, Xinying; Chen, Yicheng; Barr, Marianne; Gelb, Michael H

Hong, Xinying; Chen, Yicheng; Barr, Marianne; Gelb, Michael H.

Afiliación

Hong X; Department of Chemistry, University of Washington, Seattle, WA, USA.
Chen Y; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Barr M; Department of Chemistry, University of Washington, Seattle, WA, USA.
Gelb MH; Biochemistry Department, Queen Elizabeth University Hospital, Glasgow, United Kingdom.

Mol Genet Metab Rep ; 33: 100935, 2022 Dec.

Article en En | MEDLINE | ID: mdl-36393897

Palabras clave

Dried blood spot (DBS); Enzymatic activity; Lysosomal acid lipase deficiency (LAL-D); Newborn screening

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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