Results 41 to 50 of about 7,727 (215)
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
Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018
Summary: Background: Hypophosphatemic rickets is a rare, genetic syndrome with multisystem involvement. It causes skeletal abnormalities, painful enthesopathies, increased risk of fracture, and short stature; leading to a substantial burden of disease ...
Jancy Andrea Huertas-Quintero, MD, MSc +3 more
doaj +1 more source
Surgical management of intracranial hypertension in rickets-related craniosynostosis
Hypophosphatemic rickets is occasionally associated with craniosynostosis. Delayed diagnosis can result in intracranial hypertension, potentially leading to serious neurological complications.
Alessio Iacoangeli +8 more
doaj +1 more source
Iron and fibroblast growth factor 23 in X-linked hypophosphatemia [PDF]
Background Excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia in autosomal dominant hypophosphatemic rickets (ADHR) and X-linked hypophosphatemia (XLH). Iron status influences C-terminal FGF23 (incorporating fragments plus intact FGF23)
Econs, Michael J. +3 more
core +1 more source
This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS ...
Mauro M.S. Borghi +2 more
doaj +1 more source
Hypophosphatemic rickets associated with giant hairy nevus
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.
Sameer Aggarwal +3 more
doaj +1 more source
Cervical Ossification of Posterior Longitudinal Ligament in X-Linked Hypophosphatemic Rickets Revealing Homogeneously Increased Vertebral Bone Density [PDF]
There is no report that describes in detail the radiological and intraoperative findings of rickets with symptomatic cervical ossification of the posterior longitudinal ligament. Here, we describe a case of X-linked hypophosphatemic rickets with cervical
Masato Shiba +3 more
doaj +1 more source
FGF23 Deficiency Leads to Mixed Hearing Loss and Middle Ear Malformation in Mice [PDF]
Fibroblast growth factor 23 (FGF23) is a circulating hormone important in phosphate homeostasis. Abnormal serum levels of FGF23 result in systemic pathologies in humans and mice, including renal phosphate wasting diseases and hyperphosphatemia. We sought
Caruso, Paul +7 more
core +5 more sources
Circulating αKlotho influences phosphate handling by controlling FGF23 production [PDF]
The FGF23 coreceptor αKlotho (αKL) is expressed as a membrane-bound protein (mKL) that forms heteromeric complexes with FGF receptors (FGFRs) to initiate intracellular signaling.
Allen, Matthew R. +18 more
core +1 more source
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’ practice.
N. N. Kartamysheva +9 more
doaj +1 more source

