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Quoted phrase not found in phrase index: "Oculopharyngeal myopathy with leukoencephalopathy 1"
Page 1
Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.
Khan ZR, Karam A, Ul Haq MA, Aman A, Karam AS. Khan ZR, et al. J Med Case Rep. 2022 Oct 3;16(1):363. doi: 10.1186/s13256-022-03582-6. J Med Case Rep. 2022. PMID: 36192783 Free PMC article.
Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy. It provides a diagnosti …
Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointe …
A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.
Wang HF, Wang J, Wang YL, Fan JJ, Mo GL, Gong FY, Chai ZM, Zhang J, Meng HX, Li CX, Guo JH, Pu CQ. Wang HF, et al. Acta Neurol Belg. 2017 Mar;117(1):259-267. doi: 10.1007/s13760-016-0701-7. Epub 2016 Oct 5. Acta Neurol Belg. 2017. PMID: 27709505
MNGIE is characterized by severe gastrointestinal dysmotility, cachexia, ophthalmoplegia, ptosis, peripheral neuropathy, and leukoencephalopathy. The condition is caused by mutation of the TYMP gene. ...Magnetic resonance imaging of the brain revealed diffuse leukoencep …
MNGIE is characterized by severe gastrointestinal dysmotility, cachexia, ophthalmoplegia, ptosis, peripheral neuropathy, and leukoencepha …
Mitochondrial hepatopathy in adults: a case series and review of the literature.
Cloots K, Verbeek J, Orlent H, Meersseman W, Cassiman D. Cloots K, et al. Eur J Gastroenterol Hepatol. 2013 Aug;25(8):892-8. doi: 10.1097/MEG.0b013e32835ee629. Eur J Gastroenterol Hepatol. 2013. PMID: 23426270 Review.
AIM: Mitochondrial diseases affect about 1/5000-1/10000 in the population. Twenty percent of patients with mitochondrial disease show liver involvement. ...Evidence-based causal therapy is unavailable for most mitochondrial diseases and liver transplan …
AIM: Mitochondrial diseases affect about 1/5000-1/10000 in the population. Twenty percent of patients with mitochondria …
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.
Filosto M, Scarpelli M, Tonin P, Testi S, Cotelli MS, Rossi M, Salvi A, Grottolo A, Vielmi V, Todeschini A, Fabrizi GM, Padovani A, Tomelleri G. Filosto M, et al. J Inherit Metab Dis. 2011 Dec;34(6):1199-203. doi: 10.1007/s10545-011-9332-6. Epub 2011 Apr 19. J Inherit Metab Dis. 2011. PMID: 21503690
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuro …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding th …
Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Yasuda K, Murase N, Yoshinaga K, Ohtani R, Goto YI, Takahashi R, Nakamura M. Yasuda K, et al. J Clin Neurosci. 2019 Mar;61:302-304. doi: 10.1016/j.jocn.2018.10.054. Epub 2018 Oct 29. J Clin Neurosci. 2019. PMID: 30385167
Diseases due to mutations of polymerase gamma (POLG) usually present with progressive external ophthalmoplegia. ...All cases with POLG1 mutations mimicking MNGIE have never shown leukoencephalopathy on brain magnetic resonance imaging (MRI) or demyelinating polyneur …
Diseases due to mutations of polymerase gamma (POLG) usually present with progressive external ophthalmoplegia. ...All cases with POL …
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.
Erdogan MA, Seckin Y, Harputluoglu MM, Karincaoglu M, Aladag M, Caliskan AR, Bilgic Y, Yildirim O, Cagin YF, Atayan Y, Cengiz AN, Emul C, Esener Z, Erbay MF, Tekedereli I. Erdogan MA, et al. Clin Dysmorphol. 2019 Jan;28(1):22-25. doi: 10.1097/MCD.0000000000000250. Clin Dysmorphol. 2019. PMID: 30407211
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of …
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, …
Mitochondrial Neurogastrointestinal Encephalopathy: Clinical, Biochemical and Molecular Study in Three Egyptian Patients.
Selim L, Van Coster R, Mehaney D, Hassan F, Vanlander A, Smet J, De Latter E, Vandemeulebroecke K, Mohamed Abdou D, Nakhla G, Mostafa M, Habets D, Bakker J, Abdel Bary A. Selim L, et al. Genet Couns. 2016;27(2):193-205. Genet Couns. 2016. PMID: 29485812
Histochemical and biochemical assay of the mitochondrial respiratory chain complexes in muscle homogenate was performed (1/3). Thymidine Phosphorylase enzyme activity was performed in 2/3 patients and Thymidine Phosphorylase gene sequencing was done (2/3) to confirm the di …
Histochemical and biochemical assay of the mitochondrial respiratory chain complexes in muscle homogenate was performed (1/3). Thymid …