A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass. (Q48349461)

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23 March 2020

title

A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass (English)

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23 March 2020

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corrigendum / erratum

Erratum to: A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.

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author

Pietro Manuel Ferraro

1

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23 March 2020

Angelo Minucci

2

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23 March 2020

Jacopo Gervasoni

5

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23 March 2020

Alessandro Naticchia

7

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23 March 2020

Ettore Capoluongo

8

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23 March 2020

3

Aniello Primiano

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23 March 2020

4

Elisa De Paolis

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23 March 2020

6

Silvia Persichilli

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23 March 2020

9

Giovanni Gambaro

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23 March 2020

publication date

17 September 2016

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23 March 2020

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23 March 2020

volume

45

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23 March 2020

issue

3

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23 March 2020

page(s)

291-294

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Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy

23 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Mutations inCYP24A1and Idiopathic Infantile Hypercalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

A lifetime of hypercalcemia and hypercalciuria, finally explained

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00240-016-0923-4

Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene

21 January 2018

1 reference

12 December 2020

CYP24A1 mutation leading to nephrocalcinosis

1 reference

12 December 2020

Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect

1 reference

12 December 2020

A Case of "Late-Onset" Idiopathic Infantile Hypercalcemia Secondary to Mutations in the CYP24A1 Gene.

1 reference

12 December 2020

LC-MS/MS for Identifying Patients with CYP24A1 Mutations

1 reference

12 December 2020

Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevated 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D

1 reference

12 December 2020

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure.

1 reference

12 December 2020

10.1007/S00240-016-0923-4

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27639704 AND SRC:MED&resulttype=core&format=json

23 March 2020

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