Results 21 to 30 of about 190,229 (170)

X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the <i>PHEX</i> Gene. [PDF]

Hum Mutat
X‐linked hypophosphatemia (XLH), primarily caused by mutations of the PHEX gene, is the most common cause of genetic rickets. Pediatric cases of XLH typically present with elevated levels of serum fibroblast growth factor 23 (FGF23), hypophosphatemia, rickets, and impaired growth.
Li D, Peng W, Kang L, Geng J, Lu Y, Lu J.   +5 more
europepmc   +2 more sources

Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few
Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak   +8 more
doaj   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +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, Gil-Peña, Helena, Corrales Reyes, Ibrain Enrique, Oro Carbajosa, Patricia, Fuente Pérez, Rocío, López García, José Manuel, Hernández-García, Frank   +6 more
core   +1 more source

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

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded. [PDF]

MedComm (2020)
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 ...
Qin W, Yu SY, Gao JL, Yan JF, Wan QQ, Jia SL, Tay F, Jiao K, Niu L.   +8 more
europepmc   +2 more sources

Longitudinal Single-Cell Transcriptomic Profiling Reveals Dynamic Immune Cell Alterations During Burosumab Therapy in X-Linked Hypophosphatemia. [PDF]

Pediatr Discov
This longitudinal single‐cell study reveals dynamic immune remodeling during burosumab therapy in pediatric X‐linked hypophosphatemia (XLH), highlighting coordinated changes in T cell subtypes (Th2, Th17, and Treg) and natural killer cell subtypes (NK2 and NK3) and immune pathways linked to osteoclast differentiation and treatment response.
Xie Y, Li L, Li R, Sun Y, Zhou T, Cun Y, Zhu G.   +6 more
europepmc   +2 more sources

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

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

Ideology and disease identity : the politics of rickets, 1929-1982 [PDF]

, 2013
How can we assess the reciprocal impacts of politics and medicine in the contemporary period? Using the example of rickets in twentieth century Britain, I will explore the ways in which a preventable, curable non-infectious disease came to have enormous ...
Bivins, Roberta E.
core   +1 more source