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Sarbu M, Munteanu CV, Dehelean L, et al. Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry. J Mass Spectrom. 2015;50(9):1044-1056doi: 10.1002/jms.3616.
Sarbu, M., Munteanu, C. V., Dehelean, L., Petrescu, A. J., Peter-Katalinic, J., & Zamfir, A. D. (2015). Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry. Journal of mass spectrometry : JMS, 50(9), 1044-1056. https://doi.org/10.1002/jms.3616
Sarbu, Mirela, et al. "Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry." Journal of mass spectrometry : JMS vol. 50,9 (2015): 1044-1056. doi: https://doi.org/10.1002/jms.3616
Sarbu M, Munteanu CV, Dehelean L, Petrescu AJ, Peter-Katalinic J, Zamfir AD. Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry. J Mass Spectrom. 2015 Sep;50(9):1044-1056. doi: 10.1002/jms.3616. PMID: 28338252.
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J Mass Spectrom. 2015 Sep;50(9):1044-1056. doi: 10.1002/jms.3616.

Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry.

Journal of mass spectrometry : JMS

Mirela Sarbu, Cristian V A Munteanu, Liana Dehelean, Andrei J Petrescu, Jasna Peter-Katalinic, Alina D Zamfir

Affiliations

  1. West University of Timisoara, Timisoara, Romania.
  2. Aurel Vlaicu University of Arad, Arad, Romania.
  3. Department of Bioinformatics and Structural Biochemistry, Institute of Biochemistry of the Romanian Academy, Bucharest, Romania.
  4. Psychiatry Discipline, Department of Neuroscience, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania.
  5. Westfälische Wilhelms University of Münster, Münster, Germany.
  6. University of Rijeka, Rijeka, Croatia.
  7. National Institute for Research and Development in Electrochemistry and Condensed Matter, Timisoara, Romania.

PMID: 28338252 DOI: 10.1002/jms.3616

Abstract

Schindler disease is an inherited metabolic disorder caused by the deficient activity of α-N-acetylgalactosaminidase enzyme. An accurate diagnosis requires, besides clinical examination, complex and costly biochemical and molecular genetic tests. In the last years, mass spectrometry (MS) based on nanofluidics and high-resolution instruments has become a successful alternative for disease diagnosis based on the investigation of O-glycopeptides in patient urine. A complex mixture of glycoforms extracted from the urine of a 3-year-old patient was investigated by Orbitrap MS equipped with Nanospray Flex Ion Source in the negative ion mode. For structural characterization of several molecular species, collision-induced dissociation MS

Copyright © 2015 John Wiley & Sons, Ltd.

Keywords: Orbitrap mass spectrometry; Schindler disease type I; glycopeptides; lysosomal storage diseases; α-N-acetylgalactosaminidase

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