Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel

Autor: A. Paisiou, M. Rogalidou, R. Pons, E. Ioannidou, K. Dimakou, A. Papadopoulou, F.M. Vaz, G. Vessalas, S.M.I. Goorden, J. Roelofsen, A. Zoetekouw, M.M. Nieman, E. Dimitriou, M. Moraitou, I. Peristeri, H. Michelakakis, A.B.P. van Kuilenburg

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 30, Iss, Pp 100829-(2022)

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 transpla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33a1b0112f6a9e9aed11633d7f3ed0be
https://pubmed.ncbi.nlm.nih.gov/34926160

Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.

Autor: Paisiou A; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Rogalidou M; Division of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Pons R; Pediatric Neurology Unit, 1st Department of Pediatrics, , Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Ioannidou E; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Dimakou K; Division of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Papadopoulou A; Division of Paediatric Gastroenterology & Hepatology, 1st Department of Paediatrics, National and Kapodistrian University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Core Facility Metabolomics, Amsterdam UMC, the Netherlands., Vessalas G; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Goorden SMI; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Roelofsen J; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Zoetekouw A; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Nieman MM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands., Dimitriou E; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Moraitou M; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Peristeri I; Stem Cell Transplant Unit, Agia Sofia Children's Hospital, Athens, Greece., Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., van Kuilenburg ABP; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Dec 03; Vol. 30, pp. 100829. Date of Electronic Publication: 2021 Dec 03 (Print Publication: 2022).