Results 11 to 20 of about 1,505 (162)
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
doaj +2 more sources
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. [PDF]
PLoS ONE, 2014 OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese ...
Hua Yue +12 more
doaj +2 more sources
Familial hypophosphatemic rickets: report of a case
Paediatrica Indonesiana, 2016 Familial Hypophosphatemic Rickets (FHR) wasfound for the first time by Albright in 1937 andis also called vitamin D resistant rickets. 1-3 It isa disease that can occur through x-linked dominant,autosom dominant, and sporadic inheritance. 1-4Albright found that most FHR is x-linked dominanttype.
Edi S Tehuteru, Taralan Tambunan
openaire +3 more sources
Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report
Педиатрическая фармакологияBackground. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate ...
Anna S. Nechaeva +5 more
doaj +2 more sources
Intestinal Phosphate Transport in Familial Hypophosphatemic Rickets [PDF]
Pediatric Research, 1976 The present report outlines an attempt to characterize inorganic phosphate uptake by human jejunal mucosa using biopsy material obtained from six patients affected by the X-linked form of vitamin D-resistant rickets and six control subjects. The tissue from control subjects accumulated 32P actively in a linear fashion against time. The incorporation of
F H, Glorieux +4 more
openaire +3 more sources
The management of siblings with familial hypophosphatemic rickets.
Helvetica paediatrica acta, 1983 Two siblings (boy and girl) born to a mother with familial hypophosphatemic rickets had abnormal values of serum phosphorus and serum alkaline phosphatase at the age of six weeks. At this age therapy with 1 alpha-hydroxycholecalciferol (1 alpha OHD3) and phosphate was started resulting in both siblings having normal growth of body length and ...
Lapatsanis, P. D. +3 more
openaire +3 more sources
Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?
Bezmiâlem Science, 2018 Objective:A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome.
Ender COŞKUNPINAR +8 more
doaj +2 more sources
X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the <i>PHEX</i> Gene. [PDF]
Hum MutatX‐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 +5 more
europepmc +2 more sources
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 +5 more
wiley +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 +8 more
europepmc +2 more sources