Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function
about
Induced 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 deficiencySequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1Asp263 missense variants perturb the active site of human phosphoglucomutase 1.Biology, Mechanism, and Structure of Enzymes in the α-d-Phosphohexomutase Superfamily.Disease severity and clinical outcome in phosphosglucomutase deficiency.Oral D-galactose supplementation in PGM1-CDG.PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.
P2860
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P2860
Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function
description
2015 nî lūn-bûn
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2015 թուականի Մարտին հրատարակուած գիտական յօդուած
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2015 թվականի մարտին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
Mutations in hereditary phosph ...... enzyme structure and function
@ast
Mutations in hereditary phosph ...... enzyme structure and function
@en
Mutations in hereditary phosph ...... enzyme structure and function
@nl
type
label
Mutations in hereditary phosph ...... enzyme structure and function
@ast
Mutations in hereditary phosph ...... enzyme structure and function
@en
Mutations in hereditary phosph ...... enzyme structure and function
@nl
prefLabel
Mutations in hereditary phosph ...... enzyme structure and function
@ast
Mutations in hereditary phosph ...... enzyme structure and function
@en
Mutations in hereditary phosph ...... enzyme structure and function
@nl
P2860
P1476
Mutations in hereditary phosph ...... enzyme structure and function
@en
P2093
Lesa J Beamer
P2860
P2888
P304
P356
10.1007/S10545-014-9757-9
P407
P577
2015-03-01T00:00:00Z
P6179
1025207768