A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia.

Lomelino-Pinheiro, Sara; Margarida, Bastos; Lages, Adriana de Sousa

Lomelino-Pinheiro, Sara; Margarida, Bastos; Lages, Adriana de Sousa.

Affiliation

Lomelino-Pinheiro S; Endocrinology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal.
Margarida B; Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.
Lages AS; Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.

Endocrinol Diabetes Metab Case Rep ; 20202020 May 05.

Article in En | MEDLINE | ID: mdl-32369769

Key words

2020; Adolescent/young adult; Calcium (serum); Cramps; DNA sequencing; Familial hypomagnesaemia with secondary hypocalcaemia*; Fractional excretion of magnesium*; Hypocalcaemia; Hypocalcaemia*; Hypomagnesaemia; Hypomagnesaemia*; Hypoparathyroidism; Irritability; Magnesium; Magnesium aspartate*; Magnesium sulphate; Male; May; Molecular genetic analysis; New disease or syndrome: presentations/diagnosis/management; PTH; Paediatrics; Parathyroid; Phosphate (serum); Portugal; Seizures; Tachycardia; Tubular phosphorus reabsorption rate8; White

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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Screening_studies Language: En Journal: Endocrinol Diabetes Metab Case Rep Year: 2020 Document type: Article Affiliation country: Portugal Country of publication: United kingdom

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