Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders-Reference-Cited by-同舟云学术

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

Published:2018-03-19 Issue:3 Volume:41 Page:457-477
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Piraud Monique^ORCID,Pettazzoni Magali,Lavoie Pamela,Ruet Séverine,Pagan Cécile,Cheillan David,Latour Philippe,Vianey-Saban Christine,Auray-Blais Christiane,Froissart Roseline

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-017-0126-3/fulltext.html

Reference205 articles.

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2. Aerts JM, Groener JE, Kuiper S et al (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 105:2812–2817. https://doi.org/10.1073/pnas.0712309105

3. An Y, Young SP, Hillman SL, Van Hove JL, Chen YT, Millington DS (2000) Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. Anal Biochem 287:136–143

4. Arends M, Wanner C, Hughes D et al (2016) Characterization of classical and nonclassical Fabry disease: A multicenter study. J Am Soc Nephrol 28:1631–1641. https://doi.org/10.1681/ASN.2016090964

5. Aula P, Raivio K, Autio S et al (1978) Four patients with a new lysosomal storage disorder (Salla disease). Monogr Hum Genet 10:16–22

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