A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene enc...

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Bibliografiset tiedot
Päätekijät: Lee, Se Eun, Jung, Yun Hye, Han, Kyoung Hee, Lee, Hyun Kyung, Kang, Hee Gyung, Ha, Il Soo, Choi, Yong, Cheong, Hae Il
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The Korean Pediatric Society 2011
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3077507/
https://ncbi.nlm.nih.gov/pubmed/21503203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2011.54.2.90
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