Piraud M - Search Results

1

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J. Reuser AJ, et al. Among authors: piraud m. Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Mol Genet Metab. 2011. PMID: 21831684 Review.

2

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: piraud m. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773

3

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

van den Bosch J, Oemardien LF, Srebniak MI, Piraud M, Huijmans JG, Verheijen FW, Ruijter GJ. van den Bosch J, et al. Among authors: piraud m. J Inherit Metab Dis. 2011 Oct;34(5):1069-73. doi: 10.1007/s10545-011-9351-3. Epub 2011 May 27. J Inherit Metab Dis. 2011. PMID: 21617927 Free PMC article.

4

Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS. Young SP, et al. Among authors: piraud m. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):50-8. doi: 10.1002/ajmg.c.31320. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22252961

5

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.

Ramsay SL, Maire I, Bindloss C, Fuller M, Whitfield PD, Piraud M, Hopwood JJ, Meikle PJ. Ramsay SL, et al. Among authors: piraud m. Mol Genet Metab. 2004 Nov;83(3):231-8. doi: 10.1016/j.ymgme.2004.07.015. Mol Genet Metab. 2004. PMID: 15542394

6

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

Piraud M, Pettazzoni M, Lavoie P, Ruet S, Pagan C, Cheillan D, Latour P, Vianey-Saban C, Auray-Blais C, Froissart R. Piraud M, et al. J Inherit Metab Dis. 2018 May;41(3):457-477. doi: 10.1007/s10545-017-0126-3. Epub 2018 Mar 19. J Inherit Metab Dis. 2018. PMID: 29556840 Review.

7

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D. Pettazzoni M, et al. Among authors: piraud m. PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017. PLoS One. 2017. PMID: 28749998 Free PMC article.

8

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C. Davit-Spraul A, et al. Among authors: piraud m. Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17. Mol Genet Metab. 2011. PMID: 21646031

9

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

Froissart R, Cheillan D, Bouvier R, Tourret S, Bonnet V, Piraud M, Maire I. Froissart R, et al. Among authors: piraud m. J Med Genet. 2005 Nov;42(11):829-36. doi: 10.1136/jmg.2004.029744. Epub 2005 Apr 1. J Med Genet. 2005. PMID: 15805149 Free PMC article.

10

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Piraud M, Pettazzoni M, de Antonio M, Vianey-Saban C, Froissart R, Chabrol B, Young S, Laforêt P; French Pompe study group. Piraud M, et al. Mol Genet Metab Rep. 2020 May 1;23:100583. doi: 10.1016/j.ymgmr.2020.100583. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32382504 Free PMC article. No abstract available.

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