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01-04-2000 | ORIGINAL PAPER

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart

Authors: Jan Peter Rake, Annelies M. ten Berge, Gepke Visser, Edwin Verlind, Klary E. Niezen-Koning, Charles H. C. M. Buys, G. Peter A. Smit, Hans Scheffer

Published in: European Journal of Pediatrics | Issue 5/2000

Title: Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart
Authors: Jan Peter Rake
Annelies M. ten Berge
Gepke Visser
Edwin Verlind
Klary E. Niezen-Koning
Charles H. C. M. Buys
G. Peter A. Smit
Hans Scheffer
Publication date: 01-04-2000
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 5/2000
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s004310051281

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Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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