Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

Abstract Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de-acetylated form of SM and it has been shown as a...

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Main Authors: Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani
Format: Article
Language:English
Published: BMC 2022-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Acid sphingomyelinase deficiency
Lysosphingomyelin
Tandem mass spectrometry
Biomarker
Niemann-Pick type a/b
Online Access:https://doi.org/10.1186/s13023-022-02560-x

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https://doi.org/10.1186/s13023-022-02560-x

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