Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

Background. Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Jan Papez, Jiri Starha, Katerina Slaba, Jaroslav A Hubacek, Jakub Pecl, Stefania Aulicka, Milan Urik, Serdar Ceylaner, Petra Vesela, Ondrej Slaby, Petr Jabandziev
Format: article
Langue:EN
Publié: Palacký University Olomouc, Faculty of Medicine and Dentistry 2021
Sujets:
R
Accès en ligne:https://doaj.org/article/41128d7da2d14bd8b8c01741231cabd0
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires