Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Barbara Mols-Kowalczewski"'
Publikováno v:
The Guthrie Journal. 74
Introduction Parathyroid carcinoma is a rare endocrine carcinoma, presenting as hypercalcemia with elevated parathyroid hormone (PTH) levels, and with renal and bone involvement. It is often misdiagnosed as parathyroid adenoma, resulting in conservat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94dda218ac10231cd076b7b32d6577c4
https://doi.org/10.53481/001c.37960
https://doi.org/10.53481/001c.37960
Autor:
F N U Manas, Barbara Mols-Kowalczewski
Publikováno v:
Journal of the Endocrine Society. 6:A457-A458
Introduction Snyder Robinson Syndrome (SRS) is a rare X-linked intellectual disability disorder caused by inactivating mutation in the spermine synthase (SMS) gene which is involved in polyamine biosynthesis. It was first described by Snyder and Robi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d583cd36a29687b8783c57ba0a10810
https://doi.org/10.1210/jendso/bvac150.952
https://doi.org/10.1210/jendso/bvac150.952
Autor:
F N U Manas, Barbara Mols-Kowalczewski
Publikováno v:
Journal of the Endocrine Society. 6:A222-A222
Introduction Hereditary Hypophosphatemic Rickets (HHR) is a group of rare inherited disorders consisting of X-linked hypophosphatemic rickets (XLHR, prevalence 1 in 20,000 births), autosomal dominant hypophosphatemic rickets (ADHR), and autosomal rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd7a1117f67bd82a5efa4b4ada4be8b7
https://doi.org/10.1210/jendso/bvac150.455
https://doi.org/10.1210/jendso/bvac150.455
Publikováno v:
Journal of the Endocrine Society. 6:A122-A122
INTRODUCTION: Pheochromocytoma is a rare, usually benign, tumor of adrenal medulla. The prevalence is about 4.5-6.5%. The common presenting symptoms are headache, palpitations, diaphoresis, flushing, hypertension, and tachycardia. The high catecholam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1960f66f2c0621f8df2ba7cf7c04a19b
https://doi.org/10.1210/jendso/bvac150.249
https://doi.org/10.1210/jendso/bvac150.249
Publikováno v:
Endocrine Practice. 23:2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d3741446c0bff1829d44b25e64d6566
https://doi.org/10.1016/s1530-891x(20)44143-6
https://doi.org/10.1016/s1530-891x(20)44143-6
Publikováno v:
Endocrine Practice. 21:147
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b321e6bfe475c19c6846aff5afdb5d72
https://doi.org/10.1016/s1530-891x(20)42725-9
https://doi.org/10.1016/s1530-891x(20)42725-9