Results 21 to 30 of about 3,965 (174)

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]

, 2016
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M, Ahn, YH, Anglani, F, Baronio, F, Bockenhauer, D, Bökenkamp, A, Bürger, J, Cheong, HI, Chung, WY, Fonduli, P, Gellermann, J, Gucev, Z, Konrad, M, Kołbuc, M, Krzemień, A, La Manna, A, La Scola, C, Lee, JW, Ludwig, M, Miklaszewska, M, Moczko, J, Niemirska, A, Paglialonga, F, Paripovic, D, Park, SJ, Park, YH, Rogowska-Kalisz, A, Roszak, M, Runowski, D, Rus, R, Said-Conti, V, Sartz, L, Sikora, P, Siteń, G, Stefanidis, CJ, Szczepańska, M, Tasic, V, Wasilewska, A, Zampetoglou, A, Zaniew, M, Załuska-Leśniewska, I, Zurrida, F   +41 more
core   +1 more source

Systemic Control of Bone Homeostasis by FGF23 Signaling [PDF]

, 2016
The regulation of phosphate metabolism as an influence on bone homeostasis is profound. Recent advances in understanding the systemic control of Fibroblast growth factor-23 (FGF23) has uncovered novel effectors of endocrine feedback loops for calcium ...
Clinkenbeard, Erica L., White, Kenneth E.   +1 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

Renal magnesium handling: New insights in understanding old problems [PDF]

, 1997
Many sharp-eyed readers have pointed out to us that in the photo next to the article about yams in Ghana (Spore 87, June 2000, page 8), the woman had put all her cassava in one basket, and not the yams she planned to use. Point taken.
Gary A. Quamme, Quamme, de Rouffignac, de Rouffignac, le Grimellec, de Rouffignac, le Grimellec, Quamme, Quamme, Quamme, Poujeol, Wong, Leliévre-Pegorier, Simon, Simon, Simon, Mandon, Di Stefano, Shareghi, Wittner, Di Stefano, Di Stefano, Mandon, Wittner, Wittner, Dai, Bailly, Elalouf, Elalouf, Quamme, Quamme, Dai, Dai, Quamme, Li, Li, Quamme, Pizzonia, Friedman, Shafik, Günther, Auger, Bailly, Bailly, Elalouf, Poujeol, de Rouffignac, Wittner, Bailly, Reeves, Stanton, Work, Bailly, Chabardés, Morel, Morel, Dai, Greger, Reeves, Suki, Massry, Massry, Suki, Friedman, Bouhtiauy, Hilal, Rossier, Jackson, Rajerison, Doucet, El Mernissi, De Rouffignac, Ahloulay, Di Stefano, Quamme, Brown, Brown, Riccardi, Riccardi, Hebert, Wang, Ye, Sands, Massry, Rude, Bapty, Bapty, Estep, Pollak, Attie, Law, Kristiansen, Marx, Pollak, Pollak, Ho, Pearce, Dunn, Shils, Al-Ghamdi, Di Stefano, Quamme, Gullestad, Rude, Elin, Niemela, Quamme, Hedemann, Praga, Challa, Geven, Griffin, Iwata, Walder, Geven, Bundy, Clauw, Nicholson, Prebble, Rodriguez-Soriano, Torrolbo, Richard, Ritchie, Douban, Devane, Friedman, Murdoch, Wester, Hollifield, Gesek, Stanton, Kroenke, Paolisso, Saito, Siegel, Duarte, Lemann, Wu, Lennon, Peraino, Shapiro, Levin, Wong, Dai, Pietrobon, Chen, Mather, McNair, Tosiello, Eknoyan, Gutsche, Luke, Luke, Bartter, Gitelman, Cushner, Stein, Simon, Scoble, Betthinelli, Zarlaga Larronndo, Colussi, Coburn, Domingues, Kreusser, Wong, Dai, Crook, Krishna   +168 more
core   +1 more source

Hypophosphatemic rickets: Revealing Novel Control Points for Phosphate Homeostasis [PDF]

, 2014
Rapid and somewhat surprising advances have recently been made towards understanding the molecular mechanisms causing heritable disorders of hypophosphatemia.
Econs, Michael J., Hum, Julia M., White, Kenneth E.   +2 more
core   +1 more source

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

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

A Giant Parathyroid Adenoma Presenting as Coughs and Dyspnea in a Young Woman: A Case Report. [PDF]

Clin Case Rep
ABSTRACT A parathyroid adenoma is defined as a benign tumor in the parathyroid glands. A type of parathyroid adenoma is giant parathyroid adenoma that weighs > 3.5 g and has a size of more than 2 cm. A 37‐year‐old woman presented with coughs and dyspnea without fever, hemoptysis, and weight loss. Examination of the patient revealed a diffusely enlarged
Chahkandi S, Amiri-Dashatan N, Koushki M, Sanjari M.   +3 more
europepmc   +2 more sources

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations [PDF]

, 2018
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH.
Casey, A, Chesher, D, Darbar, U, Lachmann, RH, Murphy, E, Oddy, M, Ryan, A, Sayal, P, Sechi, A, Simister, C, Waters, A, Wedatilake, Y   +11 more
core   +1 more source

Serum fibroblast growth factor 23, serum iron and bone mineral density in premenopausal women [PDF]

, 2016
Fibroblast growth factor 23 (FGF23) circulates as active protein and inactive fragments. Low iron status increases FGF23 gene expression, and iron deficiency is common. We hypothesized that in healthy premenopausal women, serum iron influences C-terminal
Acton, Anthony, Acton, Dena, Econs, Michael J., Imel, Erik A., Liu, Ziyue, McQueen, Amie K., Padgett, Leah R., Peacock, Munro   +7 more
core   +1 more source