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1دورية أكاديمية
المؤلفون: 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
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Adenylosuccinate lyase deficiency, Exome sequencing, Intellectual disability, Epilepsy, Neurometabolic disease, Purine nucleotide cycle defect, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Mastrogiorgio, GerardaAff1, Aff2, Macchiaiolo, MarinaAff1, Aff2, Buonuomo, Paola SabrinaAff1, Aff2, Bellacchio, Emanuele, Bordi, Matteo, Vecchio, DavideAff1, Aff2, Brown, Kari Payne, Watson, Natalie Karen, Contardi, Benedetta, Cecconi, FrancescoAff3, Aff4, Tartaglia, Marco, Bartuli, AndreaAff1, Aff2
المصدر: Orphanet Journal of Rare Diseases. 16(1)
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3دورية أكاديمية
المؤلفون: Banerjee, Arundhati, Bhatia, Vikas, Didwal, Gunjan, Singh, Arvind Kumar, Saini, Arushi GahlotAff1
المصدر: The Indian Journal of Pediatrics. 88(3):263-265
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4دورية أكاديمية
المؤلفون: Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli
المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
مصطلحات موضوعية: Adenylosuccinate lyase deficiency, Purine metabolism, Exome sequencing, Autophagy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: 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
المصدر: Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-7 (2017)
مصطلحات موضوعية: Adenylosuccinate lyase deficiency, Whole exome sequencing, Diagnosis, Epilepsy, Pediatrics, RJ1-570
وصف الملف: electronic resource
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6دورية أكاديمية
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7
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
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8
المصدر: The Indian Journal of Pediatrics. 88:263-265
مصطلحات موضوعية: Purine-Pyrimidine Metabolism, Inborn Errors, Pediatrics, medicine.medical_specialty, Encephalopathy, Compound heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Autistic Disorder, Adenylosuccinate lyase deficiency, Cerebral atrophy, Psychomotor retardation, business.industry, Adenylosuccinate Lyase, Infant, Newborn, Infant, medicine.disease, Hypotonia, Pediatrics, Perinatology and Child Health, Autism, Female, medicine.symptom, business, 030217 neurology & neurosurgery
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9
المؤلفون: Cory M. Pfeifer, Rana M. Yazdani, Samantha Castillo, Samar Kayfan, Kevin Wong, Jeffrey H. Miller
المصدر: Radiology Case Reports, Vol 14, Iss 2, Pp 255-259 (2019)
Radiology Case Reportsمصطلحات موضوعية: lcsh:Medical physics. Medical radiology. Nuclear medicine, Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Adenylosuccinate lyase deficiency, lcsh:R895-920, Genetic disorder, Magnetic resonance imaging, medicine.disease, Hypotonia, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Neuroradiology, medicine, Radiology, Nuclear Medicine and imaging, medicine.symptom, business, Hypomyelination, 030217 neurology & neurosurgery, Mri findings, Genetic testing
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المؤلفون: Krijt, Matyáš
المساهمون: Zikánová, Marie, Šebesta, Ivan, Čajka, Tomáš
مصطلحات موضوعية: Nespecifické neurologické symptomy, Tandem mass spectrometry, Deficit PAICS, PAICS deficiency, Screening, Human cellular model, De novo syntéza purinů, AICA-ribosiduria, HPLC-MS, AICA-ribosidurie, Suchá krevní kapka (DBS), Adenylosuccinate lyase deficiency, Unspecific neurological symptoms, Dried blood spots, Deficit Adenylosukcinátlyázy, Lidský buněčný model, Purinosom, De novo purine synthesis, Tandemová hmotnostní spektrometrie, Purinosome, MS, DBS
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::763586858b775acc608a1ed8fb14979d
http://www.nusl.cz/ntk/nusl-438853