Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I-Reference-Cited by-同舟云学术

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

Published:2011-03-23 Issue:4 Volume:34 Page:901-906
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Guillard Mailys,Wada Yoshinao,Hansikova Hana,Yuasa Isao,Vesela Katerina,Ondruskova Nina,Kadoya Machiko,Janssen Alice,Van den Heuvel Lambertus P. W. J.,Morava Eva,Zeman Jiri,Wevers Ron A.,Lefeber Dirk J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-011-9311-y

Reference13 articles.

1. Bunkenborg J, Pilch BJ, Podtelejnikov AV, Wisniewski JR (2004) Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. Proteomics 4(2):454–465

2. Fujita M, Satoh C, Asakawa J, Nagahata Y, Tanaka Y, Hazama R, Krasteff T (1985) Electrophoretic variants of blood proteins in Japanese. VI. Transferrin. Jpn J Hum Genet 30(3):191–200

3. Guillard M, Morava E, van Delft FL, Hague R, Korner C, Adamowicz M, Wevers RA, Lefeber DJ (2011) Plasma N-Glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem

4. Hahn SH, Minnich SJ, O'Brien JF (2006) Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia. J Inherit Metab Dis 29(1):235–237

5. Hulsmeier AJ, Paesold-Burda P, Hennet T (2007) N-glycosylation site occupancy in serum glycoproteins using multiple reaction monitoring liquid chromatography-mass spectrometry. Mol Cell Proteomics 6(12):2132–2138

Cited by 33 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A complement C4–derived glycopeptide is a biomarker for PMM2-CDG;JCI Insight;2024-04-08

2. Biochemical diagnosis of congenital disorders of glycosylation;Advances in Clinical Chemistry;2024

3. “Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics;PROTEOMICS – Clinical Applications;2023-10-24

4. Loss of hepatic manganese transporter ZIP8 disrupts serum transferrin glycosylation and the glutamate-glutamine cycle;Journal of Trace Elements in Medicine and Biology;2023-07

5. High CDT without clinical context: Beware of the variant;Clinica Chimica Acta;2023-04