Cargando…
SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mother with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
Background: Familial hypocalciuric hypercalcemia type 1 (FHH1) is caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), and considered to be a benign condition associated with mild-to-moderate hypercalcemia (1). However, the children of parents with FHH1 can develop a variety...
Autores principales: | Hannan, Fadil M, Dharmaraj, Poonam, Gorvin, Caroline M, Soni, Astha, Nelhans, Nick D, Olesen, Mie Kronborg, Boon, Hannah, Cranston, Treena, Thakker, Rajesh V |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208433/ http://dx.doi.org/10.1210/jendso/bvaa046.729 |
Ejemplares similares
-
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
por: Dharmaraj, Poonam, et al.
Publicado: (2020) -
MON-539 Mice Harboring a Germline Heterozygous AP2S1 Mutation, Arg15Leu, Are a Model for Familial Hypocalciuric Hypercalcemia Type 3 (FHH3)
por: Hannan, Fadil, et al.
Publicado: (2019) -
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα(11) Mutation
por: Gorvin, Caroline M, et al.
Publicado: (2017) -
A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)
por: Gorvin, Caroline M, et al.
Publicado: (2016) -
OR30-5 Germline Ablation of G-Protein Subunit Alpha-11 in Mice Causes Hypercalcemia That Is Rectified by Treatment with Cinacalcet
por: Hannan, Fadil, et al.
Publicado: (2019)