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Glycogen Storage Disease XIV

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

Related topics

Related topics

14 relations
Autosomal recessive inheritanceBifid uvulaCleft PalateFatigue
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Broader (1)

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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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