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De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia

29-year-old female presenting with an 8-year history of unexplained hypomagnesaemia, which was severe enough to warrant intermittent inpatient admission for intravenous magnesium. Urinary magnesium was inappropriately normal in the context of hypomagnesaemia indicating magnesium wasting. Ultrasound...

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Detalhes bibliográficos
Publicado no:Endocrinol Diabetes Metab Case Rep
Main Authors: Stiles, C E, Thuraisingham, R, Bockenhauer, D, Platts, L, Kumar, A V, Korbonits, M
Formato: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5863246/
https://ncbi.nlm.nih.gov/pubmed/29576871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-17-0120
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