Cargando…

Mitochondrial Neurogastrointestinal Encephalomyopathy Causing Fanconi Syndrome

Detalles Bibliográficos
Autores principales:	Razzaq, Ansa, Earl, Wesley, Levsky, Simona, Rao, Maya K., Seres, David S., Hirano, Michio, Rosen, Raphael J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Nephrology Rounds
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9751574/ https://www.ncbi.nlm.nih.gov/pubmed/36531873 http://dx.doi.org/10.1016/j.ekir.2022.07.176

Ejemplares similares

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)

Acute Acquired Fanconi Syndrome in Multiple Myeloma After Hematopoietic Stem Cell Transplantation
por: Sy-Go, Janina Paula T., et al.
Publicado: (2020)

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome with an Unusual Pattern of Inheritance
por: Trikamji, Bhavesh, et al.
Publicado: (2017)

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

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)

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

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

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

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)

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

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)

Long-Standing Hypokalemia and Lactic Acidosis as the Primary Presentation of Mitochondrial Myopathy
por: Miao, Jing, et al.
Publicado: (2020)

A Novel Case of Pseudohyponatremia Caused by Hypercholesterolemia
por: Song, Lu, et al.
Publicado: (2018)

COPA Syndrome as a Cause of Lupus Nephritis
por: Boulisfane-El Khalifi, Siham, et al.
Publicado: (2019)

Genetic Deficiency of Adipose Triglyceride Lipase Is Associated With a Novel Type of Podocytopathy
por: Nagasawa, Yasuyuki, et al.
Publicado: (2021)

A Case of Fibronectin Glomerulopathy Caused by Missense Mutations in the Fibronectin 1 Gene
por: Hirashio, Shuma, et al.
Publicado: (2017)

von Brünn Nests Hyperplasia as a Cause of Ureteral Stenosis After Kidney Transplantation
por: Hamzaoui, Mouad, et al.
Publicado: (2016)

Oxalate Nephropathy Caused by Excessive Vitamin C Administration in 2 Patients With COVID-19
por: Fontana, Francesco, et al.
Publicado: (2020)

Pierson Syndrome in an Infant With Congenital Nephrotic Syndrome and Unique Brain Pathology
por: Hiser, Wesley, et al.
Publicado: (2020)

Thiamethoxam, a Neonicotinoid Poisoning Causing Acute Kidney Injury via a Novel Mechanism
por: Ramanathan, Sakthirajan, 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)

Severe Acute Kidney Injury and Double Tubulopathy Due to Dual Toxicity Caused by Combination Antiretroviral Therapy
por: Soto, Karina, et al.
Publicado: (2018)

Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations
por: Losekoot, Monique, et al.
Publicado: (2020)

Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria
por: Chen, Alyssa, et al.
Publicado: (2019)

Autologous Stem Cell Transplant for the Treatment of Type I Crystal Cryoglobulinemic Glomerulonephritis Caused by Monoclonal Gammopathy of Renal Significance (MGRS)
por: Kousios, Andreas, et al.
Publicado: (2019)

Monoclonal Gammopathy of Renal Significance Causes C3 Glomerulonephritis Via Monoclonal IgG Kappa Inhibition of Complement Factor H
por: Johnson, Christopher K., et al.
Publicado: (2021)

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

Identification of a New Complement Factor H Mutation in a Patient With Pregnancy-Related Acute Kidney Injury
por: Santoro, Domenico, 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)

Lupus-Like Immune Complex-Mediated Glomerulonephritis in Patients With Hepatitis C Virus Infection Treated With Oral, Interferon-Free, Direct-Acting Antiviral Therapy
por: Sise, Meghan E., et al.
Publicado: (2016)

Ischemic Monomelic Neuropathy: Diagnosis, Pathophysiology, and Management
por: Thimmisetty, Ravi K., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_ghr1qqvet124pk512gg5bc4t0j