Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Natalie Karen Watson"'
Autor:
Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability. Here we provide an updat
Externí odkaz:
https://doaj.org/article/6f3e197046184bc182934ab966600958
Autor:
Marco Tartaglia, Marina Macchiaiolo, Kari Payne Brown, Paola Sabrina Buonuomo, Matteo Bordi, Gerarda Mastrogiorgio, Andrea Bartuli, Benedetta Contardi, Emanuele Bellacchio, Francesco Cecconi, Davide Vecchio, Natalie Karen Watson
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Background Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability. Here we provide an updated clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::334f529b5719bf383229df830abc6f53
http://hdl.handle.net/2108/303778
http://hdl.handle.net/2108/303778
