Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the
gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal period has a wide differential diagnosis. We present the case of a female ne...
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Full title
Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
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TN_cdi_doaj_primary_oai_doaj_org_article_5d94eae5784945d3ab3dc1cce2734248
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5d94eae5784945d3ab3dc1cce2734248
Other Identifiers
ISSN
2227-9067
E-ISSN
2227-9067
DOI
10.3390/children10061011
