Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation

Vitamin D‐dependent rickets type 1 VDDR‐1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long‐time follow‐up of a case with a novel mutation including high‐resolution peripheral quantitative computed tomography of the bone. Adequat...

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Detalles Bibliográficos
Autores principales: Füchtbauer, Laila, Brusgaard, Klaus, Ledaal, Pål, Frost, Morten, Frederiksen, Anja L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693699/
https://www.ncbi.nlm.nih.gov/pubmed/26734137
http://dx.doi.org/10.1002/ccr3.406
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author Füchtbauer, Laila
Brusgaard, Klaus
Ledaal, Pål
Frost, Morten
Frederiksen, Anja L.
author_facet Füchtbauer, Laila
Brusgaard, Klaus
Ledaal, Pål
Frost, Morten
Frederiksen, Anja L.
author_sort Füchtbauer, Laila
collection PubMed
description Vitamin D‐dependent rickets type 1 VDDR‐1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long‐time follow‐up of a case with a novel mutation including high‐resolution peripheral quantitative computed tomography of the bone. Adequate treatment resulted in a normalized phenotype.
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spelling pubmed-46936992016-01-05 Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation Füchtbauer, Laila Brusgaard, Klaus Ledaal, Pål Frost, Morten Frederiksen, Anja L. Clin Case Rep Case Reports Vitamin D‐dependent rickets type 1 VDDR‐1 is a recessive inherited disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. We present long‐time follow‐up of a case with a novel mutation including high‐resolution peripheral quantitative computed tomography of the bone. Adequate treatment resulted in a normalized phenotype. John Wiley and Sons Inc. 2015-11-05 /pmc/articles/PMC4693699/ /pubmed/26734137 http://dx.doi.org/10.1002/ccr3.406 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial (http://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Füchtbauer, Laila
Brusgaard, Klaus
Ledaal, Pål
Frost, Morten
Frederiksen, Anja L.
Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation
title Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation
title_full Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation
title_fullStr Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation
title_full_unstemmed Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation
title_short Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation
title_sort case report: vitamin d‐dependent rickets type 1 caused by a novel cyp27b1 mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4693699/
https://www.ncbi.nlm.nih.gov/pubmed/26734137
http://dx.doi.org/10.1002/ccr3.406
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