(Q35561244)

8 August 2017

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title

Gastrointestinal manifestations of mitochondrial disease (English)

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8 August 2017

main subject

mitochondrial disease

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Lynette A. Gillis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14562575

22 March 2024

Ronald J. Sokol

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14562575

22 March 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14562575

22 March 2024

publication date

1 September 2003

1 reference

full work available at URL

8 August 2017

https://api.elsevier.com/content/article/PII:S0889855303000529?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0889-8553(03)00052-9

https://api.elsevier.com/content/article/PII:S0889855303000529?httpAccept=text/plain

22 March 2024

1 reference

https://api.crossref.org/works/10.1016/S0889-8553(03)00052-9

Gastroenterology Clinics of North America

22 March 2024

published in

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8 August 2017

volume

32

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8 August 2017

issue

3

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8 August 2017

page(s)

789-817, v

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INTRAMITOCHONDRIAL FIBERS WITH DNA CHARACTERISTICS. I. FIXATION AND ELECTRON STAINING REACTIONS

8 August 2017

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Sequence and organization of the human mitochondrial genome

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7 January 2021

Protean manifestations of mitochondrial diseases: a minireview

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7 January 2021

Mitochondrial genetics: a paradigm for aging and degenerative diseases?

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7 January 2021

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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7 January 2021

The epidemiology of pathogenic mitochondrial DNA mutations

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7 January 2021

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

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7 January 2021

Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders

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7 January 2021

Epidemiology and treatment of mitochondrial disorders

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7 January 2021

Clinical presentation of mitochondrial disorders in childhood.

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7 January 2021

Mitochondrial respiratory chain disorders I: mitochondrial DNA defects

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7 January 2021

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

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7 January 2021

Human deafness dystonia syndrome is a mitochondrial disease

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7 January 2021

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

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7 January 2021

Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase

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7 January 2021

Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation

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7 January 2021

Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver

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7 January 2021

Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood

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7 January 2021

Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure

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7 January 2021

Liver transplantation in mitochondrial respiratory chain disorders

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7 January 2021

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

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7 January 2021

Liver involvement in Alpers disease.

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7 January 2021

Respiratory chain deficiency in Alpers syndrome.

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7 January 2021

Progressive neuronal degeneration of childhood (PNDC) with liver disease.

1 reference

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7 January 2021

Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations

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7 January 2021

Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis

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7 January 2021

Fatal infantile liver failure associated with mitochondrial DNA depletion

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7 January 2021

Mitochondrial DNA depletion in children

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https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Liver failure associated with mitochondrial DNA depletion

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https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Acute liver failure in infancy: a 14-year experience of a pediatric liver transplantation center

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Mitochondrial and submitochondrial localization of human deoxyguanosine kinase

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

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7 January 2021

Mitochondrial DNA depletion and dGK gene mutations

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7 January 2021

Inherited ophthalmoplegia with intestinal pseudo-obstruction

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7 January 2021

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy

1 reference

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7 January 2021

Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia. A muscular biochemical study of a mitochondrial disorder

1 reference

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7 January 2021

Diagnosis and management of MNGIE syndrome in children: case report and review of the literature

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7 January 2021

Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

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7 January 2021

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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7 January 2021

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

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7 January 2021

Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Altered thymidine metabolism due to defects of thymidine phosphorylase

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Pearson's marrow/pancreas syndrome: a histological and genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Pancytopenia and vacuolation of marrow precursors associated with necrotizing encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Genetic counselling in mitochondrial diseases.

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https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Chronic diarrhea associated with the A3243G mtDNA mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

[Intestinal pseudoobstructions and gastric necrosis in mitochondrial myopathy]

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https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract

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7 January 2021

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

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7 January 2021

Mitochondrial mutation in diabetic patient with gastrointestinal symptoms

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7 January 2021

Intestinal pseudo-obstruction in a diabetic man: role of the mitochondrial A3243G mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

mtDNA A3243G MELAS mutation is not associated with multigenerational female migraine

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Acromutilating, Paralyzing Neuropathy With Corneal Ulceration in Navajo Children

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Liver disease in Navajo neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

The mechanism of inhibition of beta-oxidation by aspirin metabolites in skin fibroblasts from Reye's syndrome patients and controls

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Grade I Reye's syndrome--outcome and predictors of progression to deeper coma grades.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Whatever happened to Reye's syndrome? Did it ever really exist?

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease

1 reference

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7 January 2021

Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Mitochondrial toxicity--new adverse drug effects

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Changes in mitochondrial DNA as a marker of nucleoside toxicity in HIV-infected patients

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Severe nucleoside-associated lactic acidosis in human immunodeficiency virus-infected patients: report of 12 cases and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Generation of hydroperoxides in isolated rat hepatocytes and hepatic mitochondria exposed to hydrophobic bile acids

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Reduced activity of the electron transport chain in liver mitochondria isolated from rats with secondary biliary cirrhosis

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Vitamin E reduces oxidant injury to mitochondria and the hepatotoxicity of taurochenodeoxycholic acid in the rat

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies

1 reference

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7 January 2021

In vivo functional investigations of lactic acid in patients with respiratory chain disorders

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7 January 2021

Laboratory approach to mitochondrial diseases

1 reference

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7 January 2021

Assessment of mitochondrial function in vivo with a breath test utilizing alpha-ketoisocaproic acid

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7 January 2021

Non-Invasive assessment of human hepatic mitochondrial function through the 13C-methionine breath test

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8553%2803%2900052-9

7 January 2021

Mitochondrial hepatopathies

15

1 reference

https://api.crossref.org/works/10.1016/S0889-8553(03)00052-9

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

22 March 2024

37

1 reference

https://api.crossref.org/works/10.1016/S0889-8553(03)00052-9

Germ-line deletions of mtDNA in mitochondrial myopathy

22 March 2024

67

1 reference

https://api.crossref.org/works/10.1016/S0889-8553(03)00052-9

Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency

22 March 2024

89

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22 March 2024

Identifiers

1 reference

8 August 2017

1 reference