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
(More)

Broader (1)

Glycogen Storage Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
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… (More)
  • figure 1
  • figure 2
Is this relevant?
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… (More)
Is this relevant?
1991
1991
Phosphoglucomutase phenotyping among Chinese in Taiwan.
Phosphoglucomutase 1 (PGM1) phenotyping was performed in 1,128 Chinese blood donors by thin-layer isoelectric focusing on agarose… (More)
Is this relevant?
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… (More)
  • table 2
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
1981
1981
Der Einfluß von Blutproben- und Spurenalterung auf das PGM1- und Gc-Subtypenmuster
The isozymes of the PGM 1 a -system can be determined more or less distinctly in stored blood samples up to 1.5 years in… (More)
Is this relevant?
1978
1978
PGM1 subtyping by means of acid starch gel electrophoresis
‘PGM1 subtyping’ can be clearly demonstrated by horizontal electrophoresis in acid starch gel. Because of the different cathodal… (More)
  • figure 1
  • table 1
  • table 2
Is this relevant?