Gastrointestinal and hepatic manifestations of mitochondrial disorders. - Wikidata - wikimedia - TriplyDB

Gastrointestinal and hepatic manifestations of mitochondrial disorders.

Gastrointestinal and hepatic manifestations of mitochondrial disorders.

http://www.wikidata.org/entity/Q38106894

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Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 Gastrointestinal dysfunction in autism spectrum disorder: the role of the mitochondria and the enteric microbiome.Spectrum of combined respiratory chain defects.The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome.Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure Development of pharmacological strategies for mitochondrial disorders.Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.Cirrhosis in children and adolescents: An overview.Mitochondrial dysfunction in liver failure requiring transplantation.Gastroesophageal Reflux in Neurologically Impaired Children: What Are the Risk Factors?Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Recent perspectives of pediatric mitochondrial diseases.

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Gastrointestinal and hepatic manifestations of mitochondrial disorders.

http://www.wikidata.org/entity/Q38106894

description

article científic

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article scientifique

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articol științific

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artigo científico

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artikel ilmiah

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artículo científico

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Gastrointestinal and hepatic manifestations of mitochondrial disorders.

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type

label

Gastrointestinal and hepatic manifestations of mitochondrial disorders.

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prefLabel

Gastrointestinal and hepatic manifestations of mitochondrial disorders.

@en

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S10545-013-9614-2

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Journal of Inherited Metabolic Disease

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Gastrointestinal and hepatic manifestations of mitochondrial disorders.

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Shamima Rahman

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P2860

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

Melas: an original case and clinical criteria for diagnosis

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Mitochondrial DNA depletion and dGK gene mutations

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

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659-673

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scholarly article

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10.1007/S10545-013-9614-2

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2013-05-15T00:00:00Z

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1008870923

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23674168

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