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GMPPB gene

Known as: GMPP-BETA, GDP-mannose pyrophosphorylase B, GMPPB 
National Institutes of Health

Related topics

Related topics

1 relation
Mannose-1-phosphate guanylyltransferase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
BackgroundDystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms… 
Review
2017
Review
2017
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome
2016
2016
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)
Objective: In this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression… 
Highly Cited
2016
Highly Cited
2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there
To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and next… 
2015
2015
GMPPB‐Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation
Mutations in GDP‐mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP‐mannose, were recently… 
2015
2015
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype
Dystroglycanopathies are characterized by deficient O-mannosyl glycosylation of α-dystroglycan (αDG) and represent an expanding… 
2015
2015
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations
2015
2015
Phenotypic Variation resulting from GMPPB Mutations with Genotype Phenotype Observations (P2.024)
OBJECTIVE: We describe four patients with mutations in GMPPB and compare genotype and phenotype with previously reported patients… 
2014
2014
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations
Review
2014
Review
2014
G.P.314 Alpha-dystroglycanopathy: Two new patients with GMPPB mutations and a mild limb-girdle phenotype
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