Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Saskia Letz"'
Autor:
Saskia Letz, Christine Haag, Egbert Schulze, Karin Frank-Raue, Friedhelm Raue, Benjamin Hofner, Bernhard Mayr, Christof Schöfl
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e115178 (2014)
Activating calcium sensing receptor (CaSR) mutations cause autosomal dominant hypocalcemia (ADH) characterized by low serum calcium, inappropriately low PTH and relative hypercalciuria. Four activating CaSR mutations cause additional renal wasting of
Externí odkaz:
https://doaj.org/article/e1d0764a84934af688578252ec8eb1d4
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 99:E1146-E1153
Heterozygous inactivating calcium-sensing receptor (CaSR) mutations lead to familial hypocalciuric hypercalcemia (FHH), whereas homozygous mutations usually cause neonatal severe hyperparathyroidism.The objective of the study was to investigate the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84bc7d88a11aae042e52474d67d9dd0
https://doi.org/10.1210/jc.2013-3593
https://doi.org/10.1210/jc.2013-3593
Autor:
Christof Schöfl, Marcus Quinkler, Egbert Schulze, Karin Frank-Raue, Erwin Lankes, U. Bogner, Christian J. Strasburger, Christine Haag, Markus Glaudo, Ulf Elbelt, Saskia Letz, Joachim Feldkamp, Bernhard Mayr, Dirk Schnabel, Sandra Scheel, Friedhelm Raue
Publikováno v:
European journal of endocrinology. 175(5)
BackgroundHomozygous inactivating mutations of the calcium-sensing receptor (CaSR) lead to neonatal severe hyperparathyroidism (NSHPT), whereas heterozygous inactivating mutations result in familial hypocalciuric hypercalcemia (FHH). It is unknown wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d985b2efa5ca49f27112a49a4f3d23
https://pubmed.ncbi.nlm.nih.gov/27666534
https://pubmed.ncbi.nlm.nih.gov/27666534
Autor:
Christof Schöfl, Helmuth-Günther Dörr, Dirk Schnabel, Egbert Schulze, Matthias Möhlig, Saskia Letz, Bernhard Mayr, Karin Frank-Raue, Ramona Rus, Christine Haag, Friedhelm Raue
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 95:E229-E233
Context and Objective: Activating mutations in the calcium-sensing receptor (CaSR) gene cause autosomal dominant hypocalcemia (ADH). The aims of the present study were the functional characterization of novel mutations of the CaSR found in patients,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3001dd9f00d018e1d647cc2d6909be75
https://doi.org/10.1210/jc.2010-0651
https://doi.org/10.1210/jc.2010-0651
Autor:
Karin Frank-Raue, Christof Schöfl, Saskia Letz, Christine Haag, Bernhard Mayr, Egbert Schulze, Benjamin Hofner, Friedhelm Raue
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e115178 (2014)
PLoS ONE
PLoS ONE
Introduction Activating calcium sensing receptor (CaSR) mutations cause autosomal dominant hypocalcemia (ADH) characterized by low serum calcium, inappropriately low PTH and relative hypercalciuria. Four activating CaSR mutations cause additional ren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52c0db0d97afaa17b8a1c507d2755bde
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/5596
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/5596
