About: Severe cardiopathy in branching enzyme deficiency

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scientific article published on 01 July 1987

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 1987 (uk) article scientifique publié en 1987 (fr) im Juli 1987 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunetu de 1987 (ast) scientific article published on 01 July 1987 (en)
publication date	wds:Q68765046-284D9CA7-0CCD-4F77-A2A8-F5BB8825AE05
publication date	1987-07-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q68765046-E170D13B-BFA4-4E2F-8FF3-82E3E3FCEE52
language of work or name	English
cites work	wds:Q68765046-143BE6BF-856C-4A80-9C84-494510D7019B wds:Q68765046-1A734F2B-DE25-41EB-9BFC-59CA5CDCA7DF wds:Q68765046-29B87D89-3729-466A-AD4D-9EA91DE1F6C0 wds:Q68765046-3F0A7717-160B-4C0C-9563-F9ABAEBAB843 wds:Q68765046-47174911-A114-438E-BBB4-F0D61D33F23C wds:Q68765046-68F60500-B71F-4443-B60C-09FA8545F0D2 wds:Q68765046-80DE8E04-BC1C-4719-96BA-A02FF939675A wds:Q68765046-85B2C9FF-EEC3-4E25-8A40-79B2D605CA81 wds:Q68765046-94A233E0-4C09-43C5-B05F-6754E8F46348 wds:Q68765046-9BBE01F2-60D7-46D8-AB96-3767FC71C852 wds:Q68765046-D8906575-1C62-493D-9ECA-F7CFAE7DA57C wds:Q68765046-DBB4AC09-8332-4460-80D6-BDDFC1FA2AC4 wds:Q68765046-F62B5D91-7C53-48B7-BF1C-C43FDAE01313
cites work	Muscle Phosphofructokinase Deficiency Human Muscle Phosphoglycerate Mutase Deficiency: Newly Discovered Metabolic Myopathy Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis The Subgroups of Type III Glycogenosis Myoclonic epilepsy with lafora bodies. Some ultrastructural, histochemical, and biochemical aspects. Debrancher deficiency: Neuromuscular disorder in 5 adults Glycogenosis IV: A new cause of infantile hypotonia Branching enzyme-deficiency glycogenosis: studies in therapy Light and electron microscopy of skeletal muscle in type IV glycogenosis Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study Studies on leukocyte brancher enzyme activityin a family with type IV glycogenosis Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide. Report of a case with histochemical and electron microscopic studies
author name string	wds:Q68765046-213DD349-2850-4381-9FC8-F075B147A595 wds:Q68765046-47A4A86E-68BD-47F2-AA30-E31A4C35D1D5 wds:Q68765046-4B2A1060-33E1-4B8F-835C-8F43991011F0 wds:Q68765046-4E738673-01F7-4B66-A313-1F81E9AC894D wds:Q68765046-51272BDD-3086-400B-9D97-1635CB1C17D1 wds:Q68765046-872AA3B2-3CBB-4229-8F05-B0BCD74E9743 wds:Q68765046-8844E462-FF48-4264-9320-17F42633076F wds:Q68765046-A886F649-14DA-475B-B713-7C21BE4E6D18 wds:Q68765046-B4F128E6-4B68-4B26-A601-AF8B2DDE25CB
author name string	D Armstrong J T Bricker S DiMauro C Langston S Servidei H Travers L Y Tani N Crisp-Lindgren R E Riepe
rdfs:label	Severe cardiopathy in branching enzyme deficiency (en) Severe cardiopathy in branching enzyme deficiency (nl)
skos:prefLabel	Severe cardiopathy in branching enzyme deficiency (en) Severe cardiopathy in branching enzyme deficiency (nl)
name	Severe cardiopathy in branching enzyme deficiency (en) Severe cardiopathy in branching enzyme deficiency (nl)
title	wds:Q68765046-F22C3B0E-70B3-4BCE-B90E-F34D5C10B14A
title	Severe cardiopathy in branching enzyme deficiency (en)
page(s)	wds:Q68765046-4B0379ED-21D6-4DE7-B685-7C7A06E05258
page(s)	51-56
instance of	wds:Q68765046-462259E7-8AB0-401D-AC76-8FF8A3870242
instance of	scholarly article
PubMed ID	wds:Q68765046-436F0FBE-4830-4260-BF5F-0DA12637833A
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/3474393
PubMed ID	3474393
published in	wds:Q68765046-B600ACEB-DE26-4272-A033-FA7616F3E23F
published in	The Journal of Pediatrics
issue	wds:Q68765046-7AA6EBF9-3EE9-4E87-B9E0-E8E3C8077F30
volume	wds:Q68765046-412F275E-CD6C-40A5-84E6-D6D7525875C0
issue	1
volume	111
DOI	wds:Q68765046-4D426440-DBA6-4B08-9BAB-9140178E56F8
DOI	http://dx.doi.org/10.1016/S0022-3476(87)80341-4
DOI	10.1016/S0022-3476(87)80341-4
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q68765046
is cites work of	Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients Neuromuscular disorders of glycogen metabolism Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency Cell migration and chimerism after whole-organ transplantation: the basis of graft acceptance Liver transplantation for glycogen storage disease types I, III, and IV Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Glycogen storage diseases: new perspectives Neonatal metabolic myopathies Metabolic myopathies Corpora-amylacea and the family of polyglucosan diseases Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients Safety and utility of endomyocardial biopsy in infants, children and adolescents: a review of 66 procedures in 53 patients Liver transplantation for type I and type IV glycogen storage disease Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis) Metabolic myopathies: a clinical approach; part II. Glycogen storage disease type IV presenting as hydrops fetalis wd:Q55847306

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