Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

Abstract Background MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations. Gastrointestinal (GI) symptoms are frequently reported in MNGIE patients, however, the...

Cijeli opis

Bibliografski detalji

Glavni autori:	Rana Yadak, Marjolein Breur, Marianna Bugiani
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2019-02-01
Serija:	Orphanet Journal of Rare Diseases
Teme:	MNGIE Mitochondrial neurogastrointestinal encephalomyopathy Chronic intestinal pseudo-obstruction CIPO Interstitial cells of Cajal ICC
Online pristup:	http://link.springer.com/article/10.1186/s13023-019-1016-6
Oznake:	Dodaj oznaku Bez oznaka, Budi prvi tko označuje ovaj zapis!