Results 31 to 40 of about 4,812 (192)
Hypophosphatemic Rickets [PDF]
Journal of Pediatric Orthopaedics, 2006 Despite early medical intervention, children with hypophosphatemic rickets often have progressive deformities in the lower extremities. With the forces imparted by gravity and weight bearing, varus or valgus deformities that might otherwise have been physiological are likely to progress, causing gait disturbance and pain.
Eduardo, Novais, Peter M, Stevens
openaire +3 more sources
Pathogenesis of FGF23-Related Hypophosphatemic Diseases Including X-linked Hypophosphatemia
Endocrines, 2022 Since phosphate is indispensable for skeletal mineralization, chronic hypophosphatemia causes rickets and osteomalacia. Fibroblast growth factor 23 (FGF23), which is mainly produced by osteocytes in bone, functions as the central regulator of phosphate ...
Tatsuro Nakanishi, Toshimi Michigami
doaj +1 more source
Scientific Production on Familial Hypophosphatemic Rickets in Scopus (2000-2022)
, 2023 An observational, descriptive, and cross-sectional study was conducted through a bibliometric analysis of the scientific output of Familial Hypophosphatemic Rickets published in journals indexed in Scopus.
Rodríguez Suárez, Julián +6 more
core +1 more source
Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
The Turkish Journal of Pediatrics, 2022 Background. Hypophosphatemic rickets (HR) is a rare disease caused by several genetic mutations in factors that cause an increase in fibroblast growth factor 23 (FGF23), and renal phosphate transporters.
Eda Çelebi Bitkin, Huri Sema Aymelek
doaj +1 more source
Nationwide Turkish Cohort Study of Hypophosphatemic Rickets [PDF]
, 2020 Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations.
ŞIKLAR, ZEYNEP +50 more
core +1 more source
Rickets-vitamin D deficiency and dependency
Indian Journal of Endocrinology and Metabolism, 2012 Rickets is an important problem even in countries with adequate sun exposure. The causes of rickets/osteomalacia are varied and include nutritional deficiency, especially poor dietary intake of vitamin D and calcium.
Manisha Sahay, Rakesh Sahay
doaj +1 more source
Journal of Oral Research, 2020 Objective: To describe the prevalence of oral manifestations of hypophosphatemic rickets in patients treated in a Peruvian referral pediatric hospital during the years 2012-2016.
Janet Ofelia Guevara-Canales +4 more
doaj +1 more source
Burosumab treatment in a child with cutaneous skeletal hypophosphatemia syndrome: A case report
Bone Reports, 2021 Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare disorder caused by somatic mosaicism for the gain of function RAS mutations . Affected patients have segmental epidermal nevi, dysplastic cortical bony lesions, and fibroblast growth factor-23
Manal Khadora, M. Zulf Mughal
doaj +1 more source
A practical approach to diagnose and treat rickets [PDF]
Ķazaķstannyṇ Klinikalyķ Medicinasy, 2021 Rickets is a disease of growing bone, before fusion of epiphyses. There is defective mineralization of cartilage matrix in the zone of provisional calcification caused either by nutritional vitamin D deficiency and/or low calcium intake or by non ...
Aditi Jaiman +3 more
doaj +1 more source
X-linked hypophosphatemic rickets: a new mutation
, 2021 Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets.
Lia Mano (10467844) +7 more
core +2 more sources