Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
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Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 DeficiencyAsp263 missense variants perturb the active site of human phosphoglucomutase 1.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Oral D-galactose supplementation in PGM1-CDG.Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes.CDG Therapies: From Bench to Bedside.
P2860
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P2860
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
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name
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
@en
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
@nl
type
label
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
@en
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
@nl
prefLabel
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
@en
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
@nl
P2093
P50
P1476
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
@en
P2093
Amanda Ackermann
Avraham Zeharia
Charles A Stanley
Daisy Rymen
Dieter Koch
Dirk Lefeber
Donald F Conrad
Eva Morava
Francis Bowling
Jaak Jaeken
P304
130-136.e8
P356
10.1016/J.JPEDS.2016.04.021
P407
P577
2016-05-17T00:00:00Z