Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Despina-Christina Pavlidou"'
Autor:
Loredano Pollegioni, Barbara Campanini, Jean-Marc Good, Zoraide Motta, Giulia Murtas, Valeria Buoli Comani, Despina-Christina Pavlidou, Noëlle Mercier, Laureane Mittaz-Crettol, Silvia Sacchi, Francesco Marchesani
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract The non-essential amino acid L-serine is involved in a number of metabolic pathways and in the brain its level is largely due to the biosynthesis from the glycolytic intermediate D-3-phosphoglycerate by the phosphorylated pathway (PP). This
Externí odkaz:
https://doaj.org/article/f1ae950022ae4b4aa316236ed018aecc
Autor:
Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, Karim Gariani, Christel Tran
Publikováno v:
Orphanet journal of rare diseases, vol. 18, no. 1, pp. 37
Background Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize available data on excess weight in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290e69c2bdbcf5d70abf2860196d9888
https://doi.org/10.1186/s13023-023-02636-2
https://doi.org/10.1186/s13023-023-02636-2
Autor:
Claire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, Alessandra Pia Porretta, Pierre Monney, Nicola Bedoni, Fabienne Maurer, Nicole Sekarski, Isis Atallah, Davoine Émeline, Xavier Jeanrenaud, Etienne Pruvot, Jacques Fellay, Andrea Superti-Furga
Publikováno v:
European journal of medical genetics, vol. 65, no. 12, pp. 104627
MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from various geographic regions, altogether suggestive of a modest or absent effect of these varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faddc27f63e5edb9bbde46ab4b0fbfeb
https://pubmed.ncbi.nlm.nih.gov/36162733
https://pubmed.ncbi.nlm.nih.gov/36162733
Publikováno v:
Journal of General Internal Medicine. 37:3489-3490
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::648c3fc7f667773fd6a2ee62a9d58840
https://doi.org/10.1007/s11606-022-07740-w
https://doi.org/10.1007/s11606-022-07740-w
Autor:
Belinda Campos-Xavier, Despina Christina Pavlidou, Julien Stanovici, Emmelie Chaibi, Christel Tran, Camille Kumps
Publikováno v:
Journal of Inherited Metabolic Disease. 44:1503-1504
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd78fe660c31f04a45c01923c50aaa68
https://doi.org/10.1002/jimd.12417
https://doi.org/10.1002/jimd.12417