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

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

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

http://www.wikidata.org/entity/Q28252466

about

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA Chronic intestinal pseudo-obstruction Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy An autosomal locus predisposing to deletions of mitochondrial DNA Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.Central nervous system manifestations of mitochondrial disorders.Leukoencephalopathies associated with inborn errors of metabolism in adults.Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy The use of neuroimaging in the diagnosis of mitochondrial disease.Revolution in mitochondrial medicine.Mitochondrial myopathies and encephalomyopathies.Does the patient have a mitochondrial encephalomyopathy?Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk Clinical mitochondrial genetics.Therapeutic prospects for mitochondrial disease.Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.Clinical spectrum and diagnosis of mitochondrial disorders.Diseases caused by nuclear genes affecting mtDNA stability.Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice Diagnosis and treatment of childhood mitochondrial diseases.Neuromuscular diseases and disorders of the alimentary system.The dual role of thymidine phosphorylase in cancer development and chemotherapy.Substoichiometric shifting in the plant mitochondrial genome is influenced by a gene homologous to MutS.Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency Genetics and mitochondrial abnormalities in autism spectrum disorders: a review.Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE Mitochondriopathies.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.Mitochondrial ATP transporter Ant2 depletion impairs erythropoiesis and B lymphopoiesis Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Regulation of mitochondrial DNA content and cancer.Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.Disorders of nuclear-mitochondrial intergenomic communication.Magnetic resonance imaging in lactic acidosis.

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P2860

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

http://www.wikidata.org/entity/Q28252466

description

1994 nî lūn-bûn

@nan

1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

1994 թվականի ապրիլին հրատարակված գիտական հոդված

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1994年の論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年論文

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1994年论文

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Mitochondrial neurogastrointes ...... cessive mitochondrial disorder

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A Lombes

http://www.w3.org/2001/XMLSchema#string

A P Hays

http://www.w3.org/2001/XMLSchema#string

C Minetti

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D M Blake

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E Bonilla

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G Silvestri

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I Butler

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M Hirano

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scholarly article

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10.1212/WNL.44.4.721

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