Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mohamad S. Draman"'
Autor:
Bhaskar Dasgupta, Mohamad S. Draman, Holly J. Garringer, Daniel L. Koller, Niamh Conlon, Siobhan I. Davis, Neal S. Fedarko, Alka Jain, Kenneth E. White, Corinne Fisher, M. J. Cullen, Tobias E. Larsson
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 91:4037-4042
Context: Familial tumoral calcinosis (TC) results from disruptions in phosphate metabolism and is characterized by high serum phosphate with normal or elevated 1,25 dihydroxyvitamin vitamin D concentrations and ectopic and vascular calcifications. Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7165ee0ba93fb3e73e08ac53ff0f872c
https://doi.org/10.1210/jc.2006-0305
https://doi.org/10.1210/jc.2006-0305
Autor:
Siobhan I. Davis, Tobias E. Larsson, Xijie Yu, Mohamad S. Draman, M. J. Cullen, Kenneth E. White, Sean D. Mooney
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 90:2424-2427
Gain-of-function mutations in fibroblast growth factor-23 (FGF23) are responsible for autosomal dominant hypophosphatemic rickets, a disorder of isolated renal phosphate wasting. Patients with the disorder display hypophosphatemia with normocalcemia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a079a938083f3ee45f1a3c505479a077
https://doi.org/10.1210/jc.2004-2238
https://doi.org/10.1210/jc.2004-2238
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed
Autor:
Holly J. Garringer, Kenneth E. White, Mohamad S. Draman, Tobias E. Larsson, M. J. Cullen, Sean D. Mooney, Siobhan I. Davis
Publikováno v:
Endocrinology. 146(9)
Familial tumoral calcinosis (TC, OMIM 211900) is a heritable disorder characterized by hyperphosphatemia, normal or elevated serum 1,25-dihydroxyvitamin D, and often severe ectopic calcifications. Two recessive mutations in fibroblast growth factor-2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe62b79195c89258fa8c6036632aa939
https://pubmed.ncbi.nlm.nih.gov/15961556
https://pubmed.ncbi.nlm.nih.gov/15961556