Results 61 to 70 of about 7,727 (215)

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

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations [PDF]

, 2018
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH.
Casey, A, Chesher, D, Darbar, U, Lachmann, RH, Murphy, E, Oddy, M, Ryan, A, Sayal, P, Sechi, A, Simister, C, Waters, A, Wedatilake, Y   +11 more
core   +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

Familial hypophosphatemic rickets

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2010
Rickets is the failure of mineralization of osteoid and newly formed bones in a child skeleton. It is commonly associated with vitamin D deficiency; however, it can be because of a decrease in the serum phosphate levels leading to inadequate ...
Sattur A, Naikmasur V, Shrivastava R, Babshet M   +3 more
doaj  

The role of FGF23/Klotho in mineral metabolism and chronic kidney disease [PDF]

, 2013
Chronic kidney disease (CKD) is a global health burden of growing incidence and prevalence. As renal function declines disturbances in mineral metabolism, such as hyperphosphatemia and secondary hyperparathyroidism, inevitably develop. These metabolic
Olauson, Hannes
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

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Brazilian Journal of Nephrology, 2020
Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent ...
Rachita Singh Dhull, Reena Jain, Bobbity Deepthi, Hae II Cheong, Abhijeet Saha, Mohit Mehndiratta, Srikanta Basu   +6 more
doaj   +2 more sources

Phosphate, Fractures, and Frustration—A Missed Diagnosis of Oncogenic Osteomalacia Leading to Multisystem Complication

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Persistent hypophosphatemia must prompt thorough evaluation. This case highlights the severe, multisystem consequences of delayed recognition of oncogenic osteomalacia. Early biochemical assessment, imaging, and multidisciplinary involvement are critical to avoid misdiagnosis and prevent irreversible complications such as skeletal fragility ...
Ryan Michael Wilson, Lydia Sturridge
wiley   +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

Renal rickets-practical approach

Indian Journal of Endocrinology and Metabolism, 2013
Rickets/osteomalacia is an important problem in a tropical country. Many cases are due to poor vitamin D intake or calcium deficient diets and can be corrected by administration of calcium and vitamin D.
Manisha Sahay, Rakesh Sahay
doaj   +1 more source