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Glycogen Storage Disease XIV
Known as:
GSD14
, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
, PGM1 DEFICIENCY
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National Institutes of Health
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Related topics
Related topics
14 relations
Autosomal recessive inheritance
Bifid uvula
Cleft Palate
Fatigue
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Broader (1)
Glycogen Storage Disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-d-phosphohexomutase superfamily
P. H. Backe
,
J. K. Laerdahl
,
L. Kittelsen
,
B. Dalhus
,
L. Mørkrid
,
M. Bjørås
Scientific Reports
2020
Corpus ID: 214672747
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
K. Stiers
,
Reed P Hansen
,
+4 authors
L. Beamer
Journal of Inherited Metabolic Disease
2020
Corpus ID: 211113079
Missense variants of human phosphoglucomutase 1 (PGM1) cause the inherited metabolic disease known as PGM1 deficiency. This…
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2017
2017
Asp263 missense variants perturb the active site of human phosphoglucomutase 1
K. Stiers
,
A. Graham
,
Bailee Kain
,
L. Beamer
The FEBS Journal
2017
Corpus ID: 23688995
The enzyme phosphoglucomutase 1 (PGM1) plays a central role in glucose homeostasis. Clinical studies have identified mutations in…
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2016
2016
Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.
K. Stiers
,
Bailee Kain
,
A. Graham
,
L. Beamer
Journal of Molecular Biology
2016
Corpus ID: 206215254
2008
2008
The histiocytic component of cutaneous manifestations of Kikuchi disease expresses myeloperoxidase.
A. Fernandez-Flores
,
M. Bouso
,
A. Alonso
,
J. Manjón
Applied immunohistochemistry & molecular…
2008
Corpus ID: 29187261
To the Editor: It was not long ago when it was demonstrated that the histiocytic infiltrate of Kikuchi lymphadenopathy expresses…
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2004
2004
Der Einfluß von Blutproben- und Spurenalterung auf das PGM1- und Gc-Subtypenmuster
S. Berg
,
M. Ladiges
,
O. Ladiges
Zeitschrift für Rechtsmedizin
2004
Corpus ID: 35152983
SummaryThe isozymes of the PGM1a-system can be determined more or less distinctly in stored blood samples up to 1.5 years in…
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1999
1999
[Characteristics of the gene pool of the Gagauz population of Moldova].
V. Spitsyn
,
A. M. Varzar
,
N. Spitsyna
Genetika
1999
Corpus ID: 11134278
Population genetic data on Gagauzes from Moldova are reported for the first time. Blood groups AB0 and Rh and biochemical markers…
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1984
1984
Electrophoretic variants of blood proteins in Japanese. II. Phosphoglucomutase-1 (PGM1)
C. Satoh
,
N. Takahashi
,
+6 authors
R. Hazama
The Japanese Journal of Human Genetics
1984
Corpus ID: 2962570
SummaryStarch gel electrophoresis of erythrocyte phosphoglucomutase-1 (PGM1) of 17,126 Japanese from Hiroshima and Nagasaki was…
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1978
1978
PGM1 subtyping by means of acid starch gel electrophoresis
S. Bissbort
,
H. Ritter
,
J. Kömpf
Human Genetics
1978
Corpus ID: 38490291
Summary‘PGM1 subtyping’ can be clearly demonstrated by horizontal electrophoresis in acid starch gel. Because of the different…
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1972
1972
‘Secondary’ isozymes derived from the three PGM loci
R. A. Fisher
,
H. Harris
Annals of Human Genetics
1972
Corpus ID: 46166217
1. The isozymes derived from the human phosphoglucomutases ‐ PGM1, PGM2, PGM3 have been examined in three tissues (lymphocytoid…
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