Publications by authors named "Saskia Letz"

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Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
Markus Glaudo, Saskia Letz, Marcus Quinkler, Ulrich Bogner, Ulf Elbelt

Eur J Endocrinol· November 2016

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Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia.
Saskia Letz, Christine Haag, Egbert Schulze, Karin Frank-Raue, Friedhelm Raue

PLoS One· May 2016

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A homozygous CaSR mutation causing a FHH phenotype completely masked by vitamin D deficiency presenting as rickets.
Dorothea Szczawinska, Dirk Schnabel, Saskia Letz, Christof Schöfl

J Clin Endocrinol Metab· June 2014

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Novel activating mutations of the calcium-sensing receptor: the calcilytic NPS-2143 mitigates excessive signal transduction of mutant receptors.
Saskia Letz, Ramona Rus, Christine Haag, Helmuth-Günther Dörr, Dirk Schnabel

J Clin Endocrinol Metab· October 2010

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