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Items: 7

1.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Piraud M, Pettazzoni M, Menegaut L, Caillaud C, Nadjar Y, Vianey-Saban C, Froissart R.

Rapid Commun Mass Spectrom. 2017 Jun 15;31(11):951-963. doi: 10.1002/rcm.7860.

PMID:
28370531
2.

Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA.

Meshach Paul D, Rajasekaran R.

Interdiscip Sci. 2018 Mar;10(1):81-92. doi: 10.1007/s12539-016-0173-8. Epub 2016 May 2.

PMID:
27138754
3.

Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease.

Sarbu M, Zhu F, Peter-Katalinić J, Clemmer DE, Zamfir AD.

Rapid Commun Mass Spectrom. 2015 Nov 15;29(21):1929-37. doi: 10.1002/rcm.7288.

PMID:
26443390
4.

Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I.

Sarbu M, Robu A, Peter-Katalinić J, Zamfir AD.

Carbohydr Res. 2014 Oct 29;398:90-100. doi: 10.1016/j.carres.2014.08.014. Epub 2014 Sep 6.

PMID:
25243357
5.

A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.

Casado M, Altimira L, Montero R, Castejón E, Nascimento A, Pérez-Dueñas B, Ormazabal A, Artuch R.

Anal Bioanal Chem. 2014 Jul;406(18):4337-43. doi: 10.1007/s00216-014-7832-6. Epub 2014 May 2.

PMID:
24788891
6.

Pharmacological chaperones for human α-N-acetylgalactosaminidase.

Clark NE, Metcalf MC, Best D, Fleet GW, Garman SC.

Proc Natl Acad Sci U S A. 2012 Oct 23;109(43):17400-5. doi: 10.1073/pnas.1203924109. Epub 2012 Oct 8.

7.

The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.

Clark NE, Garman SC.

J Mol Biol. 2009 Oct 23;393(2):435-47. doi: 10.1016/j.jmb.2009.08.021. Epub 2009 Aug 14.

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