Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

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 clinical profiling of the disorder and discuss genotype...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Mastrogiorgio, Gerarda, Macchiaiolo, Marina, Buonuomo, Paola Sabrina, Bellacchio, Emanuele, Bordi, Matteo, Vecchio, Davide, Brown, Kari Payne, Watson, Natalie Karen, Contardi, Benedetta, Cecconi, Francesco, Tartaglia, Marco, Bartuli, Andrea
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7919308/
https://ncbi.nlm.nih.gov/pubmed/33648541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01731-6
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