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Quoted phrase not found in phrase index: "Oculopharyngeal myopathy with leukoencephalopathy 1"
Page 1
Mitochondrial hepatopathy in adults: a case series and review of the literature.
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 …
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 …
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Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.
Bax BE, Bain MD, Scarpelli M, Filosto M, Tonin P, Moran N.
Bax BE, et al.
Neurology. 2013 Oct 1;81(14):1269-71. doi: 10.1212/WNL.0b013e3182a6cb4b. Epub 2013 Aug 21.
Neurology. 2013.
PMID: 23966250
Free PMC article.
TP deficiency leads to plasma and tissue accumulations of thymidine and deoxyuridine which generate imbalances within the mitochondrial nucleotide pools, ultimately leading to mitochondrial dysfunction.(1) MNGIE is characterized clinically by leukoencephalopathy, ex …
TP deficiency leads to plasma and tissue accumulations of thymidine and deoxyuridine which generate imbalances within the mitochondrial nucl …
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