Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.

Su, Peiling; Khaledi, Hamid; Waggoner, Christine; Gelb, Michael H

Su, Peiling; Khaledi, Hamid; Waggoner, Christine; Gelb, Michael H.

Affiliation

Su P; Departments of Chemistry, University of Washington, Seattle, Washington, USA.
Khaledi H; Departments of Chemistry, University of Washington, Seattle, Washington, USA.
Waggoner C; CUREGM1 Foundation, Albany, California, USA.
Gelb MH; Departments of Chemistry, University of Washington, Seattle, Washington, USA.

J Inherit Metab Dis ; 44(1): 264-271, 2021 01.

Article in En | MEDLINE | ID: mdl-32506457

Subject(s)

Gangliosidosis, GM1/diagnosis; beta-Galactosidase/physiology; Biomarkers/blood; Case-Control Studies; Dried Blood Spot Testing/methods; Gangliosidosis, GM1/blood; Humans; Infant, Newborn; Neonatal Screening/methods; Tandem Mass Spectrometry

Key words

GM1-gangliosidosis; beta-Galactosidase; biomarkers; dried blood spots; newborn screening; tandem mass spectrometry

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gangliosidosis, GM1 / Beta-Galactosidase Type of study: Diagnostic_studies / Observational_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2021 Type: Article Affiliation country: United States

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