Many thanks to my PhD-supervisors @jeroendebaaij @R_Bindels@deinosaur and all the others who contributed!
Leave me a message if you are interested in a (digital) copy or if you just want to contact!
#PhD#research@gitelmansuk
What is the cause of the electrolyte problems in patients with genetically unsolved Gitelman syndrome?
That is one of the questions that I tried to answer in my PhD-project, which I successfully defended last week.
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Ernstig magnesiumtekort is een zeldzame aandoening veroorzaakt door genetische mutaties. Maar in ongeveer een vijfde van de gevallen vonden artsen tot nu toe geen verklaring in het DNA. Onderzoekers van het @radboudumc spoorden nieuwe genetische fouten op.
https://t.co/sdaF07SaqO
Think of the mitochondrial genome, in genetically unexplained Gitelman syndrome! Ready why in our new study which is out today in JASN.
Full:https://t.co/rZF1iquSyj
Credits also to @knoers Karl-Peter Schlingmann, Detlef Bockenhauer, @jeroendebaaij, Rosa Vargas-Poussou and more.
Happy to share my latest publication! https://t.co/mQ17TrLdvT. Remarkable story of a patient who survives a loss of function of the type 1 angiotensin II receptor (AGTR1).
Many thanks to Jaap Deinum and all other co-authors for writing this together. @AnnekeBech@JanDanser