Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation (Q58093397)

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1 May 2020

case report

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title

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation (English)

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1 May 2020

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primary hyperparathyroidism

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Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

inferred from title

corrigendum / erratum

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author

Manuela Capozza

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Girolamo Mattioli

7

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Antonio Di Mauro

8

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author name string

Iolanda Chinellato

2

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Vito Guarnieri

3

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Natascia Di Lorgi

4

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Maria Accadia

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Cristina Traggiai

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Nicola Laforgia

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language of work or name

English

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publication date

30 October 2018

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volume

18

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issue

1

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page(s)

340

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Creative Commons Attribution 4.0 International

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copyright license

start time

30 October 2018

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

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12 December 2020

Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism

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12 December 2020

The calcium sensing receptor and its alternatively spliced form in keratinocyte differentiation

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12 December 2020

Calcimimetic Compounds: a Direct Approach to Controlling Plasma Levels of Parathyroid Hormone in Hyperparathyroidism

1 reference

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12 December 2020

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

1 reference

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12 December 2020

Role of the calcium-sensing receptor in parathyroid gland physiology

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12 December 2020

Calcium receptor-mediated intracellular signalling

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12 December 2020

The calcium-sensing receptor and related diseases

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12 December 2020

Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations

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12 December 2020

Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor

1 reference

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12 December 2020

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years

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12 December 2020

Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet

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12 December 2020

Successful use of bisphosphonate and calcimimetic in neonatal severe primary hyperparathyroidism

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12 December 2020

Needle in a haystack-parathyroid gland in a 10-day old infant: a case report and literature review

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12 December 2020

Bisphosphonates use in children

1 reference

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12 December 2020

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia

1 reference

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12 December 2020

Neonatal hypercalcemia due to a homozygous mutation in the calcium-sensing receptor: failure of cinacalcet

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12 December 2020

Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.

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12 December 2020

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

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12 December 2020

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder

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12 December 2020

Intraoperative parathyroid hormone monitoring in neonatal severe primary hyperparathyroidism

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12 December 2020

Surgical treatment of children with hyperparathyroidism: single centre experience

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12 December 2020

Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/30376845

12 December 2020

Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/30376845

12 December 2020

Subtotal vs. total parathyroidectomy with autotransplantation for patients with renal hyperparathyroidism have similar outcomes

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https://pubmed.ncbi.nlm.nih.gov/30376845

12 December 2020

10.1186/S12887-018-1319-0

Identifiers

DOI

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1 May 2020

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PubMed publication ID

30376845

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