Results 41 to 50 of about 7,235,288 (192)

Characterization of native FGF23 protein and mutant forms causing autosomal dominant hypophosphatemic rickets and familial tumoral calcinosis [PDF]

, 2006
The regulation of phosphate metabolism is a complex process that is still only partly understood. At the end of the eighties, studies in a mouse model for hypophosphatemic rickets provided evidence that phosphate wasting could not be explained by a ...
Benet-Pagès, Anna
core   +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, ANIK, AHMET, Kırel, Birgül, Cayir, Atilla, Catli, Gonul, Unal, Edip, Ozbek, Mehmet Nuri, Yildirim, Ruken, EREN, ERDAL, BÖBER, ECE, Ucakturk, Ahmet, Şıklar, Zeynep, DEMİR, KORCAN, Kardelen, Aslı Derya, Akyurek, Nesibe, DEMİRCİOĞLU, SERAP, ABACI, AYHAN, KİREL, BİRGÜL, Abacı, Ayhan, Kor, Yilmaz, ABALI, Saygın, Kara, Cengiz, Aydın, Murat, Poyrazoglu, Sukran, Cetinkaya, Semra, Çatlι, Gönül, HATİPOĞLU, NİHAL, Yıldırım, Ruken, Anık, Ahmet, Çayır, Atilla, Aydin, Murat, BERBEROĞLU, MERİH, BEREKET, ABDULLAH, GÜRAN, TÜLAY, Kardelen, Asli, Bayramoglu, Elvan, Tarım, Ömer Faruk, Çetinkaya, Semra Çaǧlar, Buyukinan, Muammer, Akberzade, Azad, Tarim, Omer, ESEN, İHSAN, Dilek, Emine, Bas, Firdevs, Goksen, Damla, Abali, Saygin, Akin, Onur, TARIM, ÖMER FARUK, EKLİOĞLU, BERAY SELVER, Turan, Serap, Akın, Önur   +50 more
core   +1 more source

Tertiary Hyperparathyroidism in X-linked Hypophosphatemic Rickets.

Internal Medicine, 2000
We report a case of tertiary hyperparathyroidism in an X-linked familial hypophosphatemic rickets (XLH) patient under regular calcitriol and self-adjusted large doses of oral phosphate salt (2.4-3.6 g/day in 4-5 divided doses) according to his serum phosphate level.
WU, Chung-JUNG, SONG, Yuh-Min, SHEU, Wayne Huey-Herng   +2 more
openaire   +3 more sources

Surgical management of intracranial hypertension in rickets-related craniosynostosis

Interdisciplinary Neurosurgery
Hypophosphatemic rickets is occasionally associated with craniosynostosis. Delayed diagnosis can result in intracranial hypertension, potentially leading to serious neurological complications.
Alessio Iacoangeli, Sergio Capelli, Andrea Held, Emidio Procaccini, Davide Luglietto, Matteo Barba, Alessandro De Benedictis, Carlo Gandolfo, Carlo Efisio Marras   +8 more
doaj   +1 more source

X-linked vitamin D-resistant rickets: 12 years of follow-up

The Pan African Medical Journal, 2018
Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total
Ahmed Anas Guerboub, Souad Moussaoui, Jad Issouani, Yassine Errahali, Ghizlaine Belmejdoub   +4 more
doaj   +1 more source

Rickets in Children: An Update

Biomedicines, 2021
Rickets refers to a deficient mineralization of the growth plate cartilage, predominantly affecting longer bones. Despite the fact that preventive measures are available, it is still a common disease worldwide; nutritional rickets, due to vitamin D ...
Cristina Gentile, Francesco Chiarelli
doaj   +1 more source

Approach to Hypophosphatemic Rickets

, 2022
Hypophosphatemic rickets typically presents in infancy or early childhood with skeletal deformities and growth plate abnormalities. The most common causes are genetic (such as X-linked hypophosphatemia), and these typically will result in lifelong ...
Imel, Erik A., Ackah, Sarah A, Imel, Erik A, Aackah, Sarah A.   +3 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: Identification as an allele of 'Hyp'

Journal of Biomedical Science, 2011
Background The endopeptidase encoded by Phex (phosphate-regulating gene with homologies to endopeptidases linked to the X chromosome) is critical for regulation of bone matrix mineralization and phosphate homeostasis.
Kimura Atsushi, Ogiwara Katsueki, Yoshiki Atsushi, Mekada Kazuyuki, Hanai Atsuko, Moriyama Kenji, Takahashi Takayuki   +6 more
doaj   +1 more source