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Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene

CONTEXT: Neonatal severe hyperparathyroidism (NSHPT) is rare and potentially lethal. It is usually from homozygous or heterozygous germline-inactivating CASR variant(s). NSHPT shows a puzzling range of serum calcium and parathyroid hormone (PTH) levels. Optimal therapy is unclear. EVIDENCE ACQUISITI...

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Bibliografiska uppgifter
I publikationen:J Clin Endocrinol Metab
Huvudupphovsmän: Marx, Stephen J, Sinaii, Ninet
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2019
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7111126/
https://ncbi.nlm.nih.gov/pubmed/31778168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgz233
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