DIFFERENTIAL DIAGNOSIS OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY. FIRST CLINICAL DESC...
DIFFERENTIAL DIAGNOSIS OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY. FIRST CLINICAL DESCRIPTION IN RUSSIA
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ABV-press
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ABV-press
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Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive progressive multisystem disorder. Most of MNGIE is caused by mutations in the gene encoding thymidine phosphorylase (TYMP), locus 22q13. Mitochondrial dysfunction represents multiple deletions and depletion of mtDNA. We present a case of MNGIE with...
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DIFFERENTIAL DIAGNOSIS OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY. FIRST CLINICAL DESCRIPTION IN RUSSIA
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TN_cdi_doaj_primary_oai_doaj_org_article_d440b81b36d74a67a1ad3be10151fd17
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d440b81b36d74a67a1ad3be10151fd17
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2222-8721
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2413-0443
DOI
10.17650/2222-8721-2015-5-2-44-54
