المؤلفون: Emanuele Bellacchio, Marina Macchiaiolo, Francesco Cecconi, Gerarda Mastrogiorgio, Andrea Bartuli, Beatrice Testa, Gerrit Weber, Paola Sabrina Buonuomo, Matteo Bordi, Marco Tartaglia

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)

مصطلحات موضوعية: Exome sequencing, Purine metabolism, AMP, Adenosine monophosphate, Case Report, AICAr, Aminoimidazole carboxamide ribotide, Compound heterozygosity, SAICAR, succinyl-aminoimidazole carboxamide ribotide, S-AMP, Adenylosuccinate, Pathogenesis, Endocrinology, ADSL, Adenylosuccinate lyase deficiency, Genetics, medicine, Autophagy, Missense mutation, lcsh:QH301-705.5, Molecular Biology, Exome, S- Ado, Succinyladenosine, Adenylosuccinate lyase deficiency, lcsh:R5-920, business.industry, medicine.disease, lcsh:Biology (General), Immunology, lcsh:Medicine (General), business, MRI, magnetic resonance imaging

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b9198851bfff36980282907406aa88
http://europepmc.org/articles/PMC7210596