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5 articles related to "Vitamin D Dependent Rickets"

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Articles

Case Report

Published on 18 May 2022

Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report

in Pediatric Endocrinology

Doua Khalid Al Homyani
Shahad Khalid Alhemaiani

Frontiers in Endocrinology

doi 10.3389/fendo.2022.862022

4,750 views
5 citations

Original Research

Published on 30 May 2024

Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia

in Pediatric Endocrinology

Afaf Alsagheir
Abdullah Al-Ashwal
Amal Binladen
Raghad Alhuthil
Faisal Joueidi
Khushnooda Ramzan
Faiqa Imtiaz

Frontiers in Endocrinology

doi 10.3389/fendo.2024.1365714

3,121 views
1 citation

Original Research

Published on 04 Nov 2022

Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study

in Children and Health

Yunting Lin
Zhihong Guan
Huifen Mei
Wen Zhang
Zhizi Zhou
Ling Su
Jing Cheng
Ruidan Zheng
Cuili Liang
Yanna Cai

Frontiers in Pediatrics

doi 10.3389/fped.2022.1007219

3,357 views
7 citations

Review

Accepted on 20 Feb 2026

Research on Vitamin D Metabolic Regulation in the Pathogenesis of Related Diseases

in Renal Endocrinology

Yumeng Ji
Ruru Bi
Lin Wang

Frontiers in Endocrinology

Original Research

Published on 27 Nov 2020

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error

in Genetics of Common and Rare Diseases

Minjing Zou
Ayla Guven
Huda A. BinEssa
Roua A. Al-Rijjal
Brian F. Meyer
Ali S. Alzahrani
Yufei Shi

Frontiers in Genetics

doi 10.3389/fgene.2020.607517

5,192 views
10 citations