Results 21 to 30 of about 187,796 (197)

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

Hypophosphatemia

, 2022
Fibroblast growth factor-23 (FGF23) measurement is a critical tool in the evaluation of patients with disordered phosphate homeostasis. Available laboratory reference ranges for blood FGF23 were developed using samples from normophosphatemic individuals.
Rachel I. Gafni, Carlos R. Ferreira, Gafni, Rachel, I, Jenny E. Blau, de Castro, Luis F., Pablo Florenzano, Pacak, Karel, Saikali, Amanda, Kelly L. Roszko, Sydney M. Brown, Isidro B. Salusky, Alison M. Boyce, Iris R. Hartley, Boyce, Alison M., Florenzano, Pablo, Michael T. Collins, Blau, Jenny E., Salusky, Isidro B., Karel Pacak, Brown, Sydney M., Gahl, William A., William A. Gahl, Ferreira, Carlos R., Amanda Saikali, Hartley, Iris R., Collins, Michael T., Roszko, Kelly L., Luis F. de Castro   +27 more
core   +1 more source

Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets

The Scientific World Journal, 2005
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, Veronica Coates, Hatim A. Omar   +2 more
doaj   +1 more source

Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]

, 1999
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Spranger, S., Benninger, C., Schwab, S., Spranger, Matthias, Dichgans, Martin   +4 more
core   +1 more source

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, Sakin TEKİN, Şükrü PALANDUZ, Hakan AVCI, Kıvanç CEFLE, N. Ozan TİRYAKİOĞLU, Ayşe KUBAT ÜZÜM, Refik TANAKOL, İlhan SATMAN   +8 more
doaj   +1 more source

Familial Hypercholesterolaemia in Children and Adolescents from 48 Countries: a cross-sectional study [PDF]

, 2023
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration: complete collaboration members are listed in the appendix (pp 4–9). INSA collaboration members: Mafalda Bourbon, Ana Catarina Alves, Ana Margarida Medeiros.Background:
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration
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

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

Whole Body, Whole Life, Whole Family: Patients’ Perspectives on X-Linked Hypophosphatemia

Journal of the Endocrine Society, 2022
Abstract The rare genetic disorder X-linked hypophosphatemia (XLH) is often exclusively considered to impact children, and, as such, adult patients with XLH may receive inadequate care because their symptoms are not associated with XLH.
Amber A Hamilton, Susan Faitos, Gin Jones, Athina Kinsley, Rupal Naik Gupta, E Michael Lewiecki   +5 more
openaire   +2 more sources

Long‐term clinical trajectory of microvillus inclusion disease associated with STXBP2‐related familial hemophagocytic lymphohistiocytosis type 5: A case report

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Familial hemophagocytic lymphohistiocytosis type 5 is caused by biallelic pathogenic variants in STXBP2, which encodes syntaxin‐binding protein, a key regulator of vesicle trafficking. In addition to immune dysregulation, patients with familial hemophagocytic lymphohistiocytosis type 5 may present with severe, persistent diarrhea associated ...
Hiroyuki Tanaka, Mariko Sekiguchi, Yuko Kajiho, Tetsuo Ushiku, Jun Fujishiro, Motohiro Kato   +5 more
wiley   +1 more source