Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency-Reference-Cited by-同舟云学术

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

Published:2018-09 Issue: Volume:199 Page:62-76
ISSN:1931-5244
Container-title:Translational Research
language:en
Short-container-title:Translational Research

Author:

Abu Bakar Nurulamin^ORCID,Voermans Nicol C.,Marquardt Thorsten,Thiel Christian,Janssen Mirian C.H.,Hansikova Hana,Crushell Ellen,Sykut-Cegielska Jolanta,Bowling Francis,MØrkrid Lars,Vissing John,Morava Eva,van Scherpenzeel Monique,Lefeber Dirk J.

Funder

Netherlands Organisation for Scientific Research

VIDI

VENI

Ministry of Health of Malaysia

Ministry of Health of the Czech Republic

German Bundesministerium fuer Bildung und Forschung

National Institutes of Health

Publisher

Elsevier BV

Subject

Biochemistry (medical),Public Health, Environmental and Occupational Health,General Medicine,Physiology (medical)

Reference22 articles.

1. Muscle glycogenosis due to phosphoglucomutase 1 deficiency;Stojkovic;N Engl J Med,2009

2. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing;Timal;Hum Mol Genet,2012

3. Multiple phenotypes in phosphoglucomutase 1 deficiency;Tegtmeyer;N Engl J Med,2014

4. Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG;Morava;Mol Genet Metab,2014

5. PGM1 deficiency: substrate use during exercise and effect of treatment with galactose;Voermans;Neuromusc Disord : NMD,2017

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