Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). It is clinically characterized by severe gastrointestinal dysmotility, cachexia, palpebral ptosis, ophthalmoparesis, sensori...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Case Rep Neurol Med
Päätekijät: Falcão de Campos, Catarina, Oliveira Santos, Miguel, Roque, Rafael, Conceição, Isabel, de Carvalho, Mamede
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Hindawi 2019
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6927060/
https://ncbi.nlm.nih.gov/pubmed/31885962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/5976410
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