المؤلفون: Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, I. Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Néji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi

مصطلحات موضوعية: Nephropathic Cystinosis Research, Pathology and Forensic Medicine, Medicine, Health Sciences, Management of Hyperbilirubinemia in Newborn Infants, Pediatrics, Perinatology and Child Health, Amino Acid Transport and Metabolism in Health and Disease, Biochemistry, Biochemistry, Genetics and Molecular Biology, Life Sciences, CTNS Gene Mutations, Cysteamine Therapy, Cystinosis, Ocular Manifestations, Pathology, Mutation, Biology, Genetics, FOS Biological sciences, Gene, Cystine, Cysteine, Enzyme

العلاقة: https://dx.doi.org/10.60692/bmszx-sxp14Test

الإتاحة: https://doi.org/10.60692/e4c78-jt65910.60692/bmszx-sxp14Test

المؤلفون: Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, I. Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Néji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi

مصطلحات موضوعية: Nephropathic Cystinosis Research, Pathology and Forensic Medicine, Medicine, Health Sciences, Management of Hyperbilirubinemia in Newborn Infants, Pediatrics, Perinatology and Child Health, Amino Acid Transport and Metabolism in Health and Disease, Biochemistry, Biochemistry, Genetics and Molecular Biology, Life Sciences, CTNS Gene Mutations, Cysteamine Therapy, Cystinosis, Ocular Manifestations, Pathology, Mutation, Biology, Genetics, FOS Biological sciences, Gene, Cystine, Cysteine, Enzyme

العلاقة: https://dx.doi.org/10.60692/e4c78-jt659Test

الإتاحة: https://doi.org/10.60692/bmszx-sxp1410.60692/e4c78-jt659Test

المؤلفون: Ariceta Iraola, Gema, Giordano, Vincenzo, Santos, Fernando

مصطلحات موضوعية: CTNS gene mutations, Cystine-depleting therapy, End-stage renal disease, Extrarenal complications, Lysosomal cystine accumulation, Renal Fanconi syndrome

وصف الملف: application/pdf

العلاقة: Pediatric Nephrology; Vol. 34 (december 2017), p. 571-578; https://ddd.uab.cat/record/203529Test; urn:10.1007/s00467-017-3856-4; urn:oai:ddd.uab.cat:203529; urn:pmid:29260317; urn:pmcid:PMC6394685; urn:pmc-uid:6394685; urn:articleid:1432198Xv34p571; urn:scopus_id:85038360327; urn:wos_id:000459819600004; urn:altmetric_id:30658540; urn:oai:egreta.uab.cat:publications/dc8ec4b9-521e-49d7-98ec-595bd30d15c5; urn:oai:pubmedcentral.nih.gov:6394685

الإتاحة: https://ddd.uab.cat/record/203529Test