Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Orphanet Journal of Rare Diseases

Matteo Bordi¹  Francesco Cecconi²  Marco Tartaglia³  Emanuele Bellacchio³  Kari Payne Brown⁴  Natalie Karen Watson⁴  Benedetta Contardi⁴  Paola Sabrina Buonuomo⁵  Davide Vecchio⁵  Gerarda Mastrogiorgio⁵  Andrea Bartuli⁵  Marina Macchiaiolo⁵ 

[1] Department of Biology, University of Rome Tor Vergata, Rome, Italy;Department of Biology, University of Rome Tor Vergata, Rome, Italy;Onco-Haematology and Cellular and Gene Therapy Research Division, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy;Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy;Parents of patients affected by Adenylosuccinate lyase deficiency, Patient’s Association “Our Journey with ADSL deficiency”, Rome, Italy;Rare Diseases and Medical Genetics Unit, Academic Department of Pediatrics (DPUO), Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio, 4, 00165, Rome, Italy;Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy;

关键词: Adenylosuccinate lyase deficiency;    Exome sequencing;    Intellectual disability;    Epilepsy;    Neurometabolic disease;    Purine nucleotide cycle defect;   

DOI  :  10.1186/s13023-021-01731-6

来源: Springer

【 授权许可】

CC BY