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

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...

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Autores principales: Jan Papez, Jiri Starha, Katerina Slaba, Jaroslav A Hubacek, Jakub Pecl, Stefania Aulicka, Milan Urik, Serdar Ceylaner, Petra Vesela, Ondrej Slaby, Petr Jabandziev
Formato: article
Lenguaje:EN
Publicado: Palacký University Olomouc, Faculty of Medicine and Dentistry 2021
Materias:
hypomagnesemia
hypocalcemia
transient receptor potential melastatin 6
infantile seizures
Medicine
R
Acceso en línea:https://doaj.org/article/41128d7da2d14bd8b8c01741231cabd0
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