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Neonatal severe hyperparathyroidism secondary to a novel homozygous CASR gene mutation

Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disease. Children present within the first 6 months of life and more commonly in the first few weeks. Common presentation is poor feeding, polyuria, dehydration, lethargy, failure to thrive, hypotonia, gastrointestinal dysmoti...

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Detalhes bibliográficos
Publicado no:Clin Cases Miner Bone Metab
Main Authors: Ahmad, Noman, Bahasan, Mona, Al-Ghamdi, Balgees Abdulhadi Abdullah, Al-Enizi, Halah Faleh, Al-Zahrani, Ali Saeed
Formato: Artigo
Idioma:Inglês
Publicado em: CIC Edizioni Internazionali 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5762229/
https://ncbi.nlm.nih.gov/pubmed/29354167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11138/ccmbm/2017.14.3.354
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