Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. - Wikidata - awgldk - TriplyDB

Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

http://www.wikidata.org/entity/Q37547485

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Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

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Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

http://www.wikidata.org/entity/Q37547485

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 07 October 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Cardiomyopathy as presenting s ...... and review of the literature.

@en

Cardiomyopathy as presenting s ...... and review of the literature.

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type

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Cardiomyopathy as presenting s ...... and review of the literature.

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Cardiomyopathy as presenting s ...... and review of the literature.

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prefLabel

Cardiomyopathy as presenting s ...... and review of the literature.

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Cardiomyopathy as presenting s ...... and review of the literature.

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S10545-016-9978-1

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Journal of Inherited Metabolic Disease

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Cardiomyopathy as presenting s ...... and review of the literature.

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Anders Oldfors

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Carola Hedberg-Oldfors

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Chris Occleshaw

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Elaine Murphy

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Emma Glamuzina

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Lisa J Anderson

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Malcolm Abernathy

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Nicola Kingston

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Oliver Watkinson

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Perry Elliott

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Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells

A classification of nucleotide-diphospho-sugar glycosyltransferases based on amino acid sequence similarities

Crystal structure of the retaining galactosyltransferase LgtC from Neisseria meningitidis in complex with donor and acceptor sugar analogs

Crystal structure of the autocatalytic initiator of glycogen biosynthesis, glycogenin

Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope

Early-onset Lafora body disease

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

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s10545-016-9978-1

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139-149

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scholarly article

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10.1007/S10545-016-9978-1

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2016-10-07T00:00:00Z

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