PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets-Reference-Cited by-同舟云学术

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PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets

Published:2007 Issue:6 Volume:22 Page:981
ISSN:1011-8934
Container-title:Journal of Korean Medical Science
language:
Short-container-title:J Korean Med Sci

Author:

Song Hae-Ryong¹,Park Joo-Won²,Cho Dae-Yeon³,Yang Jae Hyuk¹,Yoon Hye-Ran⁴,Jung Sung-Chul²

Affiliation:

1. Department of Orthopedic Surgery, Rare Diseases Institute, Korea University Guro Hospital, Seoul, Korea.

2. Department of Biochemistry, College of Medicine, Ewha Womans University, Seoul, Korea.

3. Clinical Research Institute, Labgenomics Co., Ltd., Seoul, Korea.

4. Department of Biomedical and Analytical Chemistry, College of Pharmacy, Duksung Women s University, Seoul, Korea.

Publisher

Korean Academy of Medical Sciences

Subject

General Medicine

Link

https://synapse.koreamed.org/pdf/10.3346/jkms.2007.22.6.981

Cited by 43 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Refractory rickets: A case of X-linked hypophosphatemic rickets (PHEX gene variation);Journal of Pediatric Endocrinology and Diabetes;2024-05-27

2. Real‐world data of Brazilian adults with X‐linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts;Molecular Genetics & Genomic Medicine;2024-02

3. A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype;Frontiers in Pediatrics;2023-09-19

4. A Case of X-Linked Hypophosphatemia: Exploring the Burden in a Single Family and the Significance of a Multidisciplinary Approach;Archives of Case Reports;2023-09-15

5. Prevalence and characteristics of paediatric X-linked hypophosphataemia in Australia and New Zealand: Results from the Australian and the New Zealand Paediatric Surveillance Units survey;Bone;2023-08

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