Results 51 to 60 of about 190,229 (170)

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X‐Linked Hypophosphatemic Rickets

Advanced Science, Volume 13, Issue 4, 19 January 2026.
The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Huixiao Wu, Wanyi Zhao, Xinyu Chen, Yanzhou Wang, Shuoshuo Wei, Bo Xiang, Yingzhou Shi, Zongyue Li, Yangyang Yao, Jin Xie, Renyuan Qiu, Meng Shu, Shuo Xu, Ping Chen, Zhiying Chen, Yingjie Wu, Weibo Xia, Ling Gao, Yongfeng Song, Jiajun Zhao, Chao Xu   +20 more
wiley   +1 more source

Burosumab in Unidentifiable Tumor‐Induced Osteomalacia

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Tumor‐induced osteomalacia (TIO) can be challenging due to underlying tumors being either unresectable or unidentifiable. Burosumab, an anti‐FGF23 monoclonal antibody, has been proven to be effective in treating TIO but is currently not subsidized for this indication in Australia.
Yi Shan Der, Santosh Chaubey, Anna Mclean, Yasmin Trinh, Shelley Pember, Ashim Sinha   +5 more
wiley   +1 more source

Hypophosphatemic Rickets: A Targeted Literature Review to Characterize the Multiple Causes of Phosphate Wasting Disorders and Identify Potential Disease Biomarkers [PDF]

, 2018
Hypophosphatemic rickets is a rare, renal phosphate wasting disorder that presents various skeletal deformities. Although there are specific clinical presentations and biochemical findings used to identify hypophosphatemic rickets, there are various ...
O\u27Mara, Christopher
core   +1 more source

Phosphate diabetes: a clinical case of family hypophosphatemic rickets

Perm Medical Journal, 2023
Objective. To describe the clinical picture of the course of hypophosphatemic rickets in two members of the same family. Phosphate diabetes is a rare hereditary pathology of mineral and bone metabolism. Materials and methods. There is presented a clinical picture of the course of hypophosphatemic rickets in two members of the same family.
openaire   +1 more source

Beyond Nutritional Deficiency: Persistent Rickets as a Manifestation of Vitamin D‐Dependent Rickets Type II in a Toddler

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Vitamin D‐dependent rickets type II (VDDR‐II) is a rare hereditary disorder caused by mutations in the vitamin D receptor gene, resulting in resistance to active vitamin D and impaired calcium absorption. We report a 2‐year and 6‐month‐old female toddler presenting with persistent rickets, delayed motor milestones, dental abnormalities, and ...
Abhisek Jha, Anil Yadav, Uma Shankar Jha, Preethuja Shah, Rohan Kumar Shah, Kuldeep Timilsina, Prabha Jha, Aabish Dahal, Saugat Bagale   +8 more
wiley   +1 more source

Hypophosphatemic Rickets/ Osteomalacia: A Case Report and Review of Literature [PDF]

, 2014
Hypophosphatemic rickets/ osteomalacia comprises of a group of disorders of bone mineralization caused due to defect in renal handling of phosphorus. The group includes X linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and ...
Kotwal, Col. Narendra, Pandit, Aditi, Kumar, Yogesh, Upreti, Vimal   +3 more
core  

Hypophosphatemic rickets associated with giant hairy nevus

, 2013
The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature and skin.
Nitya Nand Sharma, Dipesh K Dhoot, Sameer Aggarwal, Dheeraj K Singhania   +3 more
core   +1 more source

Recent Utilization of Pediatric Extrapolation and Modeling and Simulation Approaches in Pediatric Drug Development in Japan

The Journal of Clinical Pharmacology, Volume 65, Issue 12, Page 1889-1899, December 2025.
Abstract In Japan, the percentage of approved drugs with pediatric indications increased to 30% in 2010‐2015, but no further increase was observed through 2020. The Ministry of Health, Labor, and Welfare in Japan presented draft future directions to promote pediatric drug development, where the modeling and simulation (M&S) approach was introduced as a
Akinori Nakashima, Akihide Tsujimoto, Masako Saito, Jun Takeda, Makiko Natori, Satoshi Shoji   +5 more
wiley   +1 more source

Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets

, 2017
Tertiary hyperparathyroidism is a rare complication of X-linked hypophosphatemic rickets. The surgical treatment is already unclear. How to cite this article Ruiz EC, Cebrián JMF, Vega L, Linacero S, Celi E, Quintáns A.
Santiago Linacero, Jose Maria Fernandez Cebrian, Laura Vega, Edgardo Celi, Antonio Quintáns, Enrique Colás Ruiz   +5 more
core   +1 more source

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source