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Glycogen Storage Disease XIV

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

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Related topics

14 relations
Autosomal recessive inheritanceBifid uvulaCleft PalateFatigue
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Glycogen Storage Disease

Papers overview

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2020
2020
Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-d-phosphohexomutase superfamily
Human phosphoglucomutase 1 (PGM1) is an evolutionary conserved enzyme that belongs to the ubiquitous and ancient α-d… 
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2020
2020
A missense variant remote from the active site impairs stability of human phosphoglucomutase 1
Missense variants of human phosphoglucomutase 1 (PGM1) cause the inherited metabolic disease known as PGM1 deficiency. This… 
2017
2017
Asp263 missense variants perturb the active site of human phosphoglucomutase 1
The enzyme phosphoglucomutase 1 (PGM1) plays a central role in glucose homeostasis. Clinical studies have identified mutations in… 
2016
2016
Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.
Human phosphoglucomutase 1 (PGM1) plays a central role in cellular glucose homeostasis, mediating the switch between glycolysis… 
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2008
2008
The histiocytic component of cutaneous manifestations of Kikuchi disease expresses myeloperoxidase.
To the Editor: It was not long ago when it was demonstrated that the histiocytic infiltrate of Kikuchi lymphadenopathy expresses… 
2004
2004
Der Einfluß von Blutproben- und Spurenalterung auf das PGM1- und Gc-Subtypenmuster
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
PGM1 subtyping by means of acid starch gel electrophoresis
Summary‘PGM1 subtyping’ can be clearly demonstrated by horizontal electrophoresis in acid starch gel. Because of the different… 
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1999
1999
[Characteristics of the gene pool of the Gagauz population of Moldova].
Population genetic data on Gagauzes from Moldova are reported for the first time. Blood groups AB0 and Rh and biochemical markers… 
1984
1984
Electrophoretic variants of blood proteins in Japanese. II. Phosphoglucomutase-1 (PGM1)
SummaryStarch gel electrophoresis of erythrocyte phosphoglucomutase-1 (PGM1) of 17,126 Japanese from Hiroshima and Nagasaki was… 
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1972
1972
‘Secondary’ isozymes derived from the three PGM loci
1. The isozymes derived from the human phosphoglucomutases ‐ PGM1, PGM2, PGM3 have been examined in three tissues (lymphocytoid… 
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