Results 1 to 10 of about 11,040 (189)
Hypophosphatemic Rickets [PDF]
Pediatric Clinics of North America, 2019 Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems and nephrolithiasis/nephrocalcinosis.
Martin, Bitzan, Paul R, Goodyer
core +5 more sources
A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene.
Chong Kun Cheon +5 more
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"Hypercalciuric hypophosphatemic rickets " [PDF]
Acta Medica Iranica, 2001 A 13 year- old girl had rickets clinically evident sicne she was 10 years of age. She received multiple doses of vitamin D3 without improvement.This patient manifested an unusal form of hypophosphatemic rickets with hypercalciuria. It is recommended that
Karamifar H +1 more
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Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl [PDF]
JCRPEAutosomal recessive hypophosphatemic rickets (ARHR) type 2 (ARHR2) is a rare form of hypophosphatemic rickets (HR) caused by a variant of the gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1).
Han-Yi Lin +4 more
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X-Linked Hypophosphatemic Rickets: A Pediatric Case Report [PDF]
Revista Portuguesa de Nefrologia e Hipertensão, 2022 X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets.
Isabel Rodrigues Leal Moitinho de Almeida +3 more
doaj +1 more source
Familial hypophosphatemic rickets
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011 S Vivekanandan
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A pathogenic variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2021 X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia.
In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
doaj +1 more source
Hypophosphatemic rickets and osteomalacia [PDF]
Arquivos Brasileiros de Endocrinologia & Metabologia, 2006 The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low ...
Menezes Filho, Hamilton de +2 more
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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
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