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Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy

Familial hypocalciuric hypercalcemia (FHH) is a mostly benign condition of elevated calcium and PTH levels based on a hyposensitive calcium sensing receptor (CaSR) in FHH 1 or its downstream regulatory pathway in FHH2 and FHH3. In children, adolescents and young adults with FHH the main challenge is...

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Detalles Bibliográficos
Autores principales: Höppner, Jakob, Sinningen, Kathrin, Raimann, Adalbert, Obermayer-Pietsch, Barbara, Grasemann, Corinna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9100033/
https://www.ncbi.nlm.nih.gov/pubmed/35566721
http://dx.doi.org/10.3390/jcm11092595