Ontology highlight
ABSTRACT:
SUBMITTER: Paisiou A
PROVIDER: S-EPMC8649387 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature
Paisiou A A Rogalidou M M Pons R R Ioannidou E E Dimakou K K Papadopoulou A A Vaz F M FM Vessalas G G Goorden S M I SMI Roelofsen J J Zoetekouw A A Nieman M M MM Dimitriou E E Moraitou M M Peristeri I I Michelakakis H H van Kuilenburg A B P ABP
Molecular genetics and metabolism reports 20211203
We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and the impact of allogeneic hematopoietic stem cell transplantation on the biochemical and clinical aspects of the disease. The patient presented at the age of 15 years with severe gastrointestinal symptoms, cachexia, peripheral neuropathy and diffuse leukoencephalopathy. The diagnosis of MNGIE disease was es ...[more]