(Q38761734)

6 September 2017

title

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? (English)

1 reference

6 September 2017

0 references

vitamin B12 deficiency

0 references

0 references

1 reference

7

1 reference

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11 June 2020

Nicolas Richard

12

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11 June 2020

16

Marie-Laure Kottler

1 reference

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11 June 2020

author name string

Arnaud Molin

1

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11 June 2020

Arnaud Wiedemann

2

1 reference

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11 June 2020

Nick Demers

3

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11 June 2020

Martin Kaufmann

4

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11 June 2020

Jérémy Do Cao

5

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11 June 2020

Laurent Mainard

6

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11 June 2020

Pierre Journeau

8

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11 June 2020

Geneviève Abeguile

9

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11 June 2020

Nadia Coudray

10

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11 June 2020

Hervé Mittre

11

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11 June 2020

Georges Weryha

13

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11 June 2020

Arthur Sorlin

14

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11 June 2020

Glenville Jones

15

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11 June 2020

Francois Feillet

17

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11 June 2020

publication date

26 May 2017

1 reference

Journal of Bone and Mineral Research

6 September 2017

published in

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11 June 2020

volume

32

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11 June 2020

issue

9

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11 June 2020

page(s)

1893-1899

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A possible genetic defect in 25-hydroxylation as a cause of rickets.

11 June 2020

cites work

1 reference

Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase

21 January 2018

1 reference

CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.

21 January 2018

1 reference

Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency

21 January 2018

1 reference

Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD

21 January 2018

1 reference

Vitamin D treatment in calcium-deficiency rickets: a randomised controlled trial

21 January 2018

1 reference

Normal plasma-1,25-(OH)2-vitamin-D concentrations in nutritional osteomalacia

21 January 2018

1 reference

Further studies on the interrelationship between parathyroid hormone and vitamin D.

21 January 2018

1 reference

Cytochrome P450-mediated metabolism of vitamin D.

21 January 2018

1 reference

CYP2R1 is a major, but not exclusive, contributor to 25-hydroxyvitamin D production in vivo

21 January 2018

1 reference

Vitamin D 25-hydroxylase - Four decades of searching, are we there yet?

21 January 2018

1 reference

De-orphanization of cytochrome P450 2R1: a microsomal vitamin D 25-hydroxilase

21 January 2018

1 reference

Vitamin D metabolites and bone mineralization in man

21 January 2018

1 reference

Absence of mutation in coding regions of CYP2R1 gene in apparent autosomal dominant vitamin D 25-hydroxylase deficiency rickets

21 January 2018

1 reference

A High-Calcium and Phosphate Rescue Diet and VDR-Expressing Transgenes Normalize Serum Vitamin D Metabolite Profiles and Renal Cyp27b1 and Cyp24a1 Expression in VDR Null Mice

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/JBMR.3181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28548312%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference