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Glycogen Storage Disease XIV

Known as: GSD14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It, PGM1 DEFICIENCY 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Human phosphoglucomutase 1 (PGM1) is an evolutionary conserved enzyme that belongs to the ubiquitous and ancient α-d… 
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2020
2020
Missense variants of human phosphoglucomutase 1 (PGM1) cause the inherited metabolic disease known as PGM1 deficiency. This… 
2017
2017
The enzyme phosphoglucomutase 1 (PGM1) plays a central role in glucose homeostasis. Clinical studies have identified mutations in… 
2016
2016
Human phosphoglucomutase 1 (PGM1) plays a central role in cellular glucose homeostasis, mediating the switch between glycolysis… 
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2008
2008
To the Editor: It was not long ago when it was demonstrated that the histiocytic infiltrate of Kikuchi lymphadenopathy expresses… 
2004
2004
SummaryThe isozymes of the PGM1a-system can be determined more or less distinctly in stored blood samples up to 1.5 years in… 
2004
2004
Summary‘PGM1 subtyping’ can be clearly demonstrated by horizontal electrophoresis in acid starch gel. Because of the different… 
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1999
1999
Population genetic data on Gagauzes from Moldova are reported for the first time. Blood groups AB0 and Rh and biochemical markers… 
1984
1984
SummaryStarch gel electrophoresis of erythrocyte phosphoglucomutase-1 (PGM1) of 17,126 Japanese from Hiroshima and Nagasaki was… 
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1972
1972
1. The isozymes derived from the human phosphoglucomutases ‐ PGM1, PGM2, PGM3 have been examined in three tissues (lymphocytoid…