Results 71 to 80 of about 7,235,288 (192)

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

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

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

HYPOPHOSPHATEMIC RICKETS [PDF]

, 2013
The article describes modern views on etiology and pathogenesis of various variants of hypophosphatemic rickets and main approaches to diagnostics and treatment of this disease; it also presents a range of clinical cases from the authors ...
T. V. Sergeeva, E. N. Tsygina, M. S. Kurilenko, A. N. Tsygin, T. S. Voznesenskaya, T. V. Margieva, O. I. Zrobok, N. N. Kartamysheva, T. V. Vashurina, M. V. Matveeva   +9 more
core   +1 more source

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

Multilocus mapping of the X-linked hypophosphatemic rickets gene

, 1992
X-linked hypophosphatemic rickets (HYP), the most common form of familial hypophosphatemic (vitamin D-resistant) rickets, is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia ...
Pericak-Vance, M A, Barker, D F, Econs, M J, Speer, M C, Fain, P R, Drezner, M K   +5 more
core   +1 more source

X-linked hypophosphatemic rickets: A case report X'e baǧli hipofosfatemik rikets: Bir vaka takdimi

, 2005
X-linked hypophosphatemic rickets, also known as vitamin D-resistant rickets, is inherited by a dominant gene located on chromosome X. These children, who are normal at birth, develop genu varum, genu valgum, coxa vara and "X or O bain" deformities in ...
SOYLU, ALPER, Türkmen, Mehmet, KAVUKÇU, SALİH, Sevinç, Nilgün   +3 more
core   +1 more source

A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022)

Orphanet Journal of Rare Diseases
Background Familial hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health and social life.
Frank Hernández-García, Helena Gil-Peña, José M. López, Rocío Fuente, Patricia Oro Carbajosa, Ibraín Enrique Corrales-Reyes, Julián Rodríguez Suárez   +6 more
doaj   +1 more source

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 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
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