About: Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

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article by A. Bardosi et al published September 1987 in Acta Neuropathologica

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 1987 (uk) article scientifique publié en 1987 (fr) im September 1987 veröffentlichter wissenschaftlicher Artikel (de) article by A. Bardosi et al published September 1987 in Acta Neuropathologica (en)
publication date	wds:Q56593070-031F1213-F85F-473A-8E6C-DDF277F31165
publication date	1987-09-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q56593070-E517F0A9-EC24-40B6-8B6F-82AFA3453D6A
exact match	https://scigraph.springernature.com/pub.10.1007/bf00688189
cites work	wds:Q56593070-3C0D6DD3-E79F-473A-8993-5879AAED01B1
cites work	Mitochondrial encephalomyopathy: fluctuating symptoms and CT.
author name string	wds:Q56593070-10E304E8-3DCA-40F7-9559-85D12B796705 wds:Q56593070-16E9CD77-C23B-4E37-A514-E0D19A05E2F4 wds:Q56593070-1C14A48B-AB0D-4C69-A82F-81B415D47E3D wds:Q56593070-2736831B-1C70-45E1-B81D-FD122C01D2BB wds:Q56593070-947920AD-E39F-4912-9E68-E60356A987EF wds:Q56593070-9B5D497A-DC30-4EEB-AF17-FFEB798432DD wds:Q56593070-9BFABAEC-40F1-4DF6-80C7-6C474F75886F wds:Q56593070-A56F5863-BF31-43B8-8BF3-3B19360384C8 wds:Q56593070-A65BECF0-0D95-4DBE-9E8B-CF3D93309E86 wds:Q56593070-C770A33F-60A8-4074-BD07-431BBB7ED130 wds:Q56593070-CD5A3EA4-F7B5-449D-BDB0-1F761D45911C wds:Q56593070-D37E7A17-3E42-4E2F-AB12-1B4BE96A5066
author name string	S. DiMauro W. Creutzfeldt H. H. Goebel R. L. Friede G. Mayer A. Bardosi A. Kohlschütter G. Rahlf G. Van Lessen K. Felgenhauer S. Servidei T. Wetterling
rdfs:label	Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase (en) Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase (nl)
skos:prefLabel	Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase (en) Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase (nl)
name	Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase (en) Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase (nl)
title	wds:Q56593070-80DE85D6-9709-41BD-B104-030CCD1955F1
title	Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase (en)
page(s)	wds:Q56593070-75BAEAAE-7CAB-4B4D-AC98-7D17947AA7B0
page(s)	248-258
instance of	wds:Q56593070-F725496D-923A-4985-BDBA-03332FAA4C04
instance of	scholarly article
published in	wds:Q56593070-B7DFAD8E-8BF8-4D0C-8806-648B19EB9CF8
published in	Acta Neuropathologica
issue	wds:Q56593070-F9A42738-FC91-4152-B9BF-0F5EFBA79D5C
volume	wds:Q56593070-5574626B-8B7C-44C6-9FFD-1C925237F9BD
issue	3
volume	74
DOI	wds:Q56593070-546904D0-7E30-4417-B416-454B00A8C19A
DOI	http://dx.doi.org/10.1007/BF00688189
DOI	10.1007/BF00688189
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56593070
is cites work of	Impairment of central and peripheral myelin in mitochondrial diseases Does the patient have a mitochondrial encephalomyopathy? Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder MNGIE: from nuclear DNA to mitochondrial DNA. Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach The neurology of mitochondrial DNA disease. Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Mitochondrial myopathies and encephalomyopathies Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options. Neurological disorders of micturition and their treatment Metabolic myopathies Mitochondrial neurogastrointestinal encephalomyopathy: manometric and diagnostic features A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts White matter involvement in mitochondrial diseases Gastrointestinal manifestations of mitochondrial disease Mitochondrial disorders. A diagnostic challenge in clinical chemistry A history of mitochondrial diseases. Mitochondria-related encephalomyopathies Diagnosis in neuromuscular diseases The molecular diagnosis of metabolic myopathies Neuromuscular and systemic presentations in adults: diagnoses beyond MERRF and MELAS Mitochondrial encephalomyopathies Intestinal transplantation for gut failure Mitochondrial mutation in diabetic patient with gastrointestinal symptoms [Mitochondrial cytopathies]. Myopathies Neuropathology of Charcot-Marie-Tooth and related disorders Autonomic dysfunction presenting as orthostatic intolerance in patients suffering from mitochondrial cytopathy Historical perspective on mitochondrial medicine Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE). Oxidative phosphorylation disease diagnosis Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses. A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA. Mitochondrial myopathy diagnosis mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy. Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome Mitochondrial respiratory chain complex I deficiency causes intractable gastrointestinal symptoms. Neuromuscular diseases and disorders of the alimentary system
is cites work of	wds:Q33785697-F770D927-DDE9-4F5A-B5A8-C04A04F07ACD wds:Q41378824-EA31F24A-741A-475C-8BF3-316D000BC6EB wds:Q41012559-FE111895-5186-4414-9D0A-10DBFC529350

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