Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood spots (DBS), and tissues of patients with MLD. Newborn screening (N...

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Bibliographic Details
Main Authors: Francyne Kubaski, Zackary M. Herbst, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Franciele B. Trapp, Rejane Gus, Alice B. O. Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V. M. B. Wilke, Thiago Oliveira, Jose A. A. Magalhães, Roberto Giugliani
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:JIMD Reports
Subjects:
arylsulfatase A
metachromatic leukodystrophy
prenatal analysis
sulfatides
tandem mass spectrometry
Online Access:https://doi.org/10.1002/jmd2.12270

Internet

https://doi.org/10.1002/jmd2.12270

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