Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS-Reference-Cited by-同舟云学术

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Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS

Published:2011-05-27 Issue:5 Volume:34 Page:1069-1073
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

van den Bosch Jeroen,Oemardien Linda F.,Srebniak Malgorzata I.,Piraud Monique,Huijmans Jan G. M.,Verheijen Frans W.,Ruijter George J. G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-011-9351-3

Reference17 articles.

1. Aula N, Aula P (2006) Prenatal diagnosis of free sialic acid storage disorders (SASD). Prenat Diagn 26:655–658

2. Aula N, Salomäki P, Timonen R et al. (2000) The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet 67:832–840

3. Froissart R, Tourret S, Bonnet V et al. (2005) Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. J Med Genet 42:829–836

4. Gopaul KP, Crook MA (2006) The inborn errors of sialic acid metabolism and their laboratory investigation. Clin Lab 52:155–169

5. Kooper AJA, Janssens PMW, de Groot ANJA et al. (2006) Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. Clin Chim Acta 371:176–182

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4. An efficient and robust HPLC method to determine the sialylation levels of human epithelial cells;PLOS ONE;2022-01-18

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