Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6

Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder characterized by neuromuscular symptoms in infancy due to extremely low levels of serum magnesium and moderate to severe hypocalcemia. Homozygous mutations in the magnesium transporter gene transient receptor...

Descripción completa

Detalles Bibliográficos
Autores principales: Astor, Marianne C, Løvås, Kristian, Wolff, Anette S B, Nedrebø, Bjørn, Bratland, Eirik, Steen-Johnsen, Jon, Husebye, Eystein S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4566842/
https://www.ncbi.nlm.nih.gov/pubmed/26273099
http://dx.doi.org/10.1530/EC-15-0066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4566842/
https://www.ncbi.nlm.nih.gov/pubmed/26273099
http://dx.doi.org/10.1530/EC-15-0066

Ejemplares similares