Zobrazeno 1 - 10
of 213
pro vyhledávání: '"Adenylosuccinate lyase deficiency"'
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:
Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Adenylosuccinate lyase deficiency is a rare neurometabolic recessive disorder of purine metabolism characterized by a wide range of clinical manifestations.We present a very mild phenotype of two siblings characterized by mild isolated cognitive disa
Externí odkaz:
https://doaj.org/article/3d794aceebe3437b9b34c5dab1234c95
Autor:
Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-7 (2017)
Abstract Background Adenylosuccinate lyase (ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. The disorder shows a
Externí odkaz:
https://doaj.org/article/c86dcd26f51b418ca04fc55185fd91a1
Akademický článek
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Autor:
Emanuele Bellacchio, Marina Macchiaiolo, Francesco Cecconi, Gerarda Mastrogiorgio, Andrea Bartuli, Beatrice Testa, Gerrit Weber, Paola Sabrina Buonuomo, Matteo Bordi, Marco Tartaglia
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Adenylosuccinate lyase deficiency is a rare neurometabolic recessive disorder of purine metabolism characterized by a wide range of clinical manifestations. We present a very mild phenotype of two siblings characterized by mild isolated cognitive dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b9198851bfff36980282907406aa88
http://europepmc.org/articles/PMC7210596
http://europepmc.org/articles/PMC7210596
Publikováno v:
The Indian Journal of Pediatrics. 88:263-265
Adenylosuccinate lyase deficiency is a rare inherited disorder of purine metabolism causing severe neurological impairment ranging from early-onset neonatal epileptic encephalopathy to progressive psychomotor retardation and autism in later life. Dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::494fa0bf1309b771b23a21516f7ca602
https://doi.org/10.1007/s12098-020-03435-4
https://doi.org/10.1007/s12098-020-03435-4
Autor:
Cory M. Pfeifer, Rana M. Yazdani, Samantha Castillo, Samar Kayfan, Kevin Wong, Jeffrey H. Miller
Publikováno v:
Radiology Case Reports, Vol 14, Iss 2, Pp 255-259 (2019)
Radiology Case Reports
Radiology Case Reports
Adenylosuccinate lyase deficiency is a rare genetic disorder with few reported cases in the United States. Magnetic resonance imaging findings in the brain include hypomyelination and low generalized parenchymal volume. Presented here is a case in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::981d7fc4710e2fc2f89dcf4630130142
http://www.sciencedirect.com/science/article/pii/S1930043318303911
http://www.sciencedirect.com/science/article/pii/S1930043318303911
Autor:
Krijt, Matyáš
Purines are organic compounds with miscellaneous functions that are found in all living organisms in complex molecules such as nucleotides, nucleosides or as purine bases. The natural balance of purine levels is maintained by their synthesis, recycli
Externí odkaz:
http://www.nusl.cz/ntk/nusl-438853
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
Autor:
Krijt, Matyáš
Purines are organic compounds with miscellaneous functions that are found in all living organisms in complex molecules such as nucleotides, nucleosides or as purine bases. The natural balance of purine levels is maintained by their synthesis, recycli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::763586858b775acc608a1ed8fb14979d
http://www.nusl.cz/ntk/nusl-438853
http://www.nusl.cz/ntk/nusl-438853