Results 21 to 30 of about 2,414 (178)

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, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo   +5 more
doaj   +1 more source

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, Jin-bo Yu, Jin-wei He, Zeng Zhang, Wen-zhen Fu, Hao Zhang, Chun Wang, Wei-wei Hu, Jie-mei Gu, Yun-qiu Hu, Miao Li, Yu-juan Liu, Zhen-Lin Zhang   +12 more
doaj   +1 more source

Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia

Frontiers in Cell and Developmental Biology, 2021
X-linked hypophosphatemia (XLH) is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in an excess of circulating intact fibroblast growth factor-23 (iFGF-23) and a waste of renal phosphate.
Xiaoyun Lin, Shanshan Li, Zhenlin Zhang, Hua Yue   +3 more
doaj   +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

Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia [PDF]

, 2015
Deletion of exon 9 from Cullin-3 (CUL3, residues 403-459: CUL3Δ403-459) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt).
Nichola L Figg, Thimo Kurz, Johnson, Clare, Yasmin, Nicola Wood, Al Maskari, Raya S, Frances‐Rose Schumacher, Kevin M O'Shaughnessy, James T Ferryman, Figg, Nichola L, Keith Siew, Knebel, Axel, Axel Knebel, Iris Hardege, Wood, Nicola, Figg, Nichola L., Sarah E Cleary, Ferryman, James T., O'Shaughnessy, Kevin M., Enchev, Radoslav, Schumacher, Frances-Rose, Cleary, Sarah E, Hardege, Iris, Al Maskari, Raya S., Kurz, Thimo, Siew, Keith, Cleary, Sarah E., Radoslav Enchev, Ferryman, James T, Clare Johnson, Jinwei Zhang, O'Shaughnessy, Kevin M, Zhang, Jinwei, Yasmin,, Raya S Al Maskari, Yasmin, [No Value]   +35 more
core   +1 more source

PHEX mimetic (SPR4-peptide) corrects and improves HYP and wild type mice energy-metabolism. [PDF]

PLoS ONE, 2014
ContextPHEX or DMP1 mutations cause hypophosphatemic-rickets and altered energy metabolism. PHEX binds to DMP1-ASARM-motif to form a complex with α5β3 integrin that suppresses FGF23 expression.
Lesya V Zelenchuk, Anne-Marie Hedge, Peter S N Rowe   +2 more
doaj   +1 more source

Vibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia [PDF]

, 2018
Background: X-linked hypophosphatemia (XLH) is the most common form of familial phosphate-wasting disorders, due to an inactivating mutation in the phosphate-regulating neutral endopeptidase, X-linked gene.
Tommasini, Steven M., Macica, Carolyn M., Uskokovic, Vuk, Petrology, Amenta, Eva, King, H.E., Petermann, Holger   +6 more
core   +2 more sources

Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH) [PDF]

, 2019
Early diagnosis, optimal therapeutic management and regular follow up of children with X-linked hypophosphatemia (XLH) determine their long term outcomes and future quality of life. Biochemical screening of potentially affected newborns in familial cases
Linglart, Agnes, Högler, Wolfgang, Schnabel, Dirk, Rothenbuhler, Anya   +3 more
core   +1 more source

Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms [PDF]

Endocrinology and Metabolism
Thyrotoxic hypokalemic periodic paralysis (THPP) is a rare but potentially fatal complication of thyrotoxicosis, characterized by transient episodes of muscle weakness in the setting of hypokalemia and underlying hyperthyroidism.
Gan Qing, Wan Nur Amalina Zakaria, Fatimah Zahra Mohamad Rom, Wan Nor Fazila Hafizan Wan Nik, Hani Ajrina Zulkeflee, Siti Nadirah Ab Rahim   +5 more
doaj   +1 more source

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

Calcified Tissue International, 2023
AbstractRare genetic skeletal disorders (GSDs) remain the major problem in orthopedics and result in significant morbidity in patients, but the causes are highly diverse. Precise molecular diagnosis will benefit management and genetic counseling. This study aims to share the diagnostic experience on a three-generation Chinese family with co-occurrence ...
Jian Ma, Ye Zhang, Xiaoxiao Ding, Zhijiang Liang, Chaoxiang Yang, Zhi Deng, Hui He, Zhihong Guan, Chunhua Zeng, Yunting Lin, Xianqiong Luo   +10 more
openaire   +2 more sources