Cargando…

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome with an Unusual Pattern of Inheritance

Detalles Bibliográficos
Autores principales:	Trikamji, Bhavesh, Mohammadkhanli, Hadi, Rafiei, Nastaran, Mishra, Shri
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2017
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586137/ https://www.ncbi.nlm.nih.gov/pubmed/28904474 http://dx.doi.org/10.4103/aian.AIAN_117_17

Ejemplares similares

Mitochondrial Neurogastrointestinal Encephalomyopathy Causing Fanconi Syndrome
por: Razzaq, Ansa, et al.
Publicado: (2022)

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)
por: Filosto, Massimiliano, et al.
Publicado: (2018)

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment
por: Bax, Bridget E.
Publicado: (2020)

A Rare Case of Mitochondrial Neurogastrointestinal Encephalomyopathy
por: Manski, Scott Adam, et al.
Publicado: (2022)

Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations
por: Huang, Hongyan, et al.
Publicado: (2019)

Mitochondrial Neurogastrointestinal Encephalomyopathy: A Nonrenal Indication for Peritoneal Dialysis
por: Chandra, V. S., et al.
Publicado: (2018)

Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy
por: Habibzadeh, Parham, et al.
Publicado: (2020)

Comment on “Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands”
por: Finsterer, Josef
Publicado: (2021)

Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy
por: Boschetti, Elisa, et al.
Publicado: (2014)

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy
por: Levene, Michelle, et al.
Publicado: (2019)

An Unfortunate Cause of Chronic Nausea and Vomiting: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
por: Dasu, Neethi, et al.
Publicado: (2022)

A Case of Mitochondrial Neurogastrointestinal Encephalomyopathy with Metabolic Complications During Refeeding
por: Khatri, Vishnupriya, et al.
Publicado: (2022)

Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report
por: Khan, Zaraq Rashid, et al.
Publicado: (2022)

Correction: Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy
Publicado: (2014)

Case report: A patient with mitochondrial neurogastrointestinal encephalomyopathy and chronic intestinal failure
por: Barisic, Ana, et al.
Publicado: (2022)

Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
por: González-Vioque, Emiliano, et al.
Publicado: (2011)

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far
por: Pacitti, Dario, et al.
Publicado: (2018)

Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
por: Tawk, Antonios, et al.
Publicado: (2020)

Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports
por: Granero Castro, Pablo, et al.
Publicado: (2010)

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options
por: Yadak, Rana, et al.
Publicado: (2017)

Regional anesthesia in two consecutive surgeries in a patient with mitochondrial neurogastrointestinal encephalomyopathy: a case report
por: Sugur, Tayfun, et al.
Publicado: (2020)

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis
por: Scarpelli, Mauro, et al.
Publicado: (2012)

Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
por: Kalkan Uçar, Sema, et al.
Publicado: (2022)

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands
por: Falcão de Campos, Catarina, et al.
Publicado: (2019)

Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation
por: Paisiou, A., et al.
Publicado: (2021)

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial
por: Bax, Bridget E., et al.
Publicado: (2019)

Quantification of Plasma and Urine Thymidine and 2’-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy
por: Kipper, Karin, et al.
Publicado: (2020)

Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B
por: Finsterer, Josef
Publicado: (2023)

An Overview of Neuromuscular Junction Aging Findings in Human and Animal Studies
por: Khosa, Shaweta, et al.
Publicado: (2019)

A Case of Sjögren's Syndrome Mimicking Inflammatory Myopathy
por: Khosa, Shaweta, et al.
Publicado: (2018)

An unusual case of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy with occipital lobe involvement
por: Trikamji, Bhavesh, et al.
Publicado: (2016)

NEWS and VIEWS: mitochondrial encephalomyopathies
por: Ienco, Elena Caldarazzo, et al.
Publicado: (2016)

Anesthetic Management of a Child with Mitochondrial Neurogastrointestinal Encephalopathy
por: Casarez, Vianey Q., et al.
Publicado: (2015)

Changes in functional magnetic resonance imaging with Yogic meditation: A pilot study
por: Mishra, Shri K., et al.
Publicado: (2017)

Anesthetic Considerations for Liver Transplantation in a Patient with Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
por: Madhok, Jai, et al.
Publicado: (2019)

Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn’s disease
por: Patel, Ravi, et al.
Publicado: (2019)

Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene
por: Wang, Jing, et al.
Publicado: (2015)

The Klippel-Trenauny Weber Syndrome: An Unusual Presentation of Hematochezia and a Review of the Literature
por: Shah, Bhavesh B., et al.
Publicado: (2009)

Unusual case of endotracheal tube obstruction by caseous necrotic material
por: Gupta, Madhu, et al.
Publicado: (2017)

Spinocerebellar ataxia-10 with paranoid schizophrenia
por: Trikamji, Bhavesh, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_v8e38ur60rm0rl0nhc9henbeh4