Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Item
http://www.wikidata.org/entity/Q26824332
Glycogen metabolism in humansInduced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 DeficiencyCompromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiencyMetabolic Liver Disease: When to Suspect and How to Diagnose?Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.What is new in CDG?Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.Limitations of galactose therapy in phosphoglucomutase 1 deficiencyDisease severity and clinical outcome in phosphosglucomutase deficiency.Oral D-galactose supplementation in PGM1-CDG.Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.Nutrition and Liver Disease.Aglycemic HepG2 Cells Switch From Aminotransferase Glutaminolytic Pathway of Pyruvate Utilization to Complete Krebs Cycle at Hypoxia
P2860

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Item
http://www.wikidata.org/entity/Q26824332
description
2014 nî lūn-bûn
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2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
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2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年學術文章
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name
Galactose supplementation in p ...... look for a novel treatable CDG
@ast
Galactose supplementation in p ...... look for a novel treatable CDG
@en
Galactose supplementation in p ...... look for a novel treatable CDG
@nl
type
label
Galactose supplementation in p ...... look for a novel treatable CDG
@ast
Galactose supplementation in p ...... look for a novel treatable CDG
@en
Galactose supplementation in p ...... look for a novel treatable CDG
@nl
prefLabel
Galactose supplementation in p ...... look for a novel treatable CDG
@ast
Galactose supplementation in p ...... look for a novel treatable CDG
@en
Galactose supplementation in p ...... look for a novel treatable CDG
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P932
P356
P1433
P1476
Galactose supplementation in p ...... look for a novel treatable CDG
@en
P2093
P2860
P304
P31
P356
10.1016/J.YMGME.2014.06.002
P407
P433
P478
P577
P698
P932