Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Archives of Neurology

• Publication date

  2007-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1001/ARCHNEUR.64.3.435PMID 17353390
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS.

  2006influential reference
• Infusion of platelets transiently reduces nucleoside overload in MNGIE

  2006cited by this paper
• Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.

  2006cited by this paper
• Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

  2006cited by this paper
• Thymidine phosphorylase mutations cause instability of mitochondrial DNA.

  2005influential reference
• Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes

  2004cited by this paper
• MNGIE neuropathy: Five cases mimicking chronic inflammatory demyelinating polyneuropathy

  2004cited by this paper
• Deoxyribonucleotide Pool Imbalance Stimulates Deletions in HeLa Cell Mitochondrial DNA*

  2003cited by this paper
• Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase*

  2002influential reference
• Diagnosis and management of MNGIE syndrome in children: case report and review of the literature.

  2002cited by this paper
• Multiple mtDNA deletions with features of MNGIE

  2002cited by this paper
• Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

  1999influential reference

• Therapeutic Advances and Future Prospects in Mitochondrial Neurogastrointestinal Encephalomyopathy

  2026cites this paper
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  2024cites this paper
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  2024cites this paper
• Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes

  2024cites this paper
• Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review

  2024cites this paper
• Mitochondriale Erkrankungen – Ein Update zu Klinik, Diagnostik und Therapie

  2022cites this paper
• A new mutation in the TYMP-gene: clinical and morphological characteristics of a patient with MNGIE syndrome

  2022cites this paper
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  2022cites this paper
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  2022cites this paper
• Mitochondrial DNA maintenance defects: potential therapeutic strategies.

  2022cites this paper
• AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives

  2022cites this paper
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  2022cites this paper
• Purine and Pyrimidine Metabolism

  2021cites this paper
• Les maladies mitochondriales de l’adulte : mise au point

  2021cites this paper
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  2021cites this paper
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  2021cites this paper
• Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single‐center experience underscoring the multiple factors involved in the prognosis

  2021cites this paper
• [Mitochondrial diseases in adults: An update].

  2021cites this paper
• mtDNA maintenance: disease and therapy

  2020cites this paper
• Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE)

  2020cites this paper
• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network

  2020cites this paper
• Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

  2020influential citation
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  2019cites this paper
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  2019cites this paper
• Mitochondrial Depletion Syndromes

  2019cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE)

  2019cites this paper
• Cardiovascular Manifestations of Mitochondrial Disease

  2019cites this paper
• Diagnosis and Management of Mitochondrial Disorders

  2019cites this paper
• Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy

  2019cites this paper
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  2018cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy: A Nonrenal Indication for Peritoneal Dialysis

  2018influential citation
• Mitochondrial neurogastrointestinal encephalomyopathy imitating Crohn's disease: a rare cause of malnutrition.

  2018cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

  2018cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

  2018cites this paper
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  2018cites this paper
• Mitochondriale neurogastrointestinale Enzephalomyopathie

  2017cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review.

  2017cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options

  2017cites this paper
• Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation

  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2016cites this paper
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  2016cites this paper
• Mitochondrial dysfunction and treatment strategies

  2016cites this paper
• Pearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy

  2016cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

  2016cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy Treated with Stem Cell Transplantation: A Case Report and Review of Literature.

  2015cites this paper
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  2015influential citation
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  2015cites this paper
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  2015cites this paper
• Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

  2015cites this paper
• Prospective therapeutic approaches in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

  2015cites this paper
• Therapeutic strategies for mitochondrial disorders.

  2015cites this paper
• Clinical and genotypic aspects of mitochondrial disease

  2015cites this paper
• Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

  2014cites this paper
• Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy

  2014cites this paper
• Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.

  2014cites this paper
• Syndromes associated with mitochondrial DNA depletion

  2014cites this paper
• Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

  2013cites this paper
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  2013cites this paper
• Nuclear-Mitochondrial Intergenomic Communication Disorders

  2012cites this paper
• CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

  2012cites this paper
• Special Issue: The evolving role of mitochondria in metabolism

  2012cites this paper
• Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients.

  2012cites this paper
• Pyruvate therapy for mitochondrial DNA depletion syndrome.

  2012cites this paper
• Dansk Nyremedicinsk Forskning

  2012cites this paper
• Therapies in inborn errors of oxidative metabolism.

  2012cites this paper
• Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

  2012cites this paper
• Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers

  2012cites this paper
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  2011cites this paper
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  2011cites this paper
• Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

  2011cites this paper
• Tachyduodenia in mitochondrial neurogastrointestinal encephalomyopathy

  2011cites this paper
• Impiego della dialisi peritoneale nell'encefalopatia mitochondriale neurogastrointestinale (MNGIE): un Caso Clinico

  2011cites this paper
• Mitochondrial neurogastrointestinal encephalopathy in an Indian family with possible manifesting carriers of heterozygous TYMP mutation.

  2011cites this paper
• Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE

  2011cites this paper
• Therapy for mitochondrial disorders: little proof, high research activity, some promise.

  2011cites this paper
• Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy

  2011cites this paper
• Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population

  2011cites this paper
• Mitochondrial DNA mutations and depletion in pediatric medicine.

  2011cites this paper
• Pathogenesis and treatment of mitochondrial myopathies: recent advances

  2010cites this paper
• Unexplained gastrointestinal dysmotility: the clue may lie in the brain

  2010cites this paper
• Metabolic stroke in childhood: Diagnostic approach and suggestions for therapy

  2010cites this paper
• Mitochondrial DNA depletion syndromes--many genes, common mechanisms.

  2010cites this paper
• Mitochondrial myopathies: developments in treatment.

  2010cites this paper
• Therapeutic prospects for mitochondrial disease.

  2010cites this paper
• Disorders from perturbations of nuclear‐mitochondrial intergenomic cross‐talk

  2009cites this paper
• Mitochondrial neurogastrointestinal encephalomyopathy.

  2009cites this paper
• Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes.

  2009cites this paper
• Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk.

  2009cites this paper
• Batteries not included: diagnosis and management of mitochondrial disease

  2009cites this paper
• Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

  2009cites this paper
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