Results 131 to 140 of about 9,343 (245)

X-Linked Hypophosphatemia with Whole Aspects

Endocrinology Research and Practice
X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in the PHEX gene, and it is a primary example of a genetic cause of hypophosphatemia. The key effect of the PHEX muta tion is the overproduction of fibroblast growth factor 23 (FGF23), a known phosphatonin.
Nergis Basmaci, Alper Gürlek
openaire   +1 more source

Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome

Bone Reports
Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare bone disorder featuring fibroblast growth factor-23 (FGF23)-mediated hypophosphatemic rickets.
Lillian Abebe, Kim Phung, Marie-Eve Robinson, Richelle Waldner, Sasha Carsen, Kevin Smit, Andrew Tice, Joanna Lazier, Christine Armour, Marika Page, Saunya Dover, Frank Rauch, Khaldoun Koujok, Leanne M. Ward   +13 more
doaj   +1 more source

Hypophosphatemic Rickets in Siblings: A Rare Case Report

Case Reports in Dentistry, 2016
Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate ...
Gummadapu Sarat, Nuthalapati Priyanka, Meka Purna Venkata Prabhat, Chintamaneni Raja Lakshmi, Sujana Mulk Bhavana, Dharmavaram Ayesha Thabusum   +5 more
doaj   +1 more source

Inflammatory myofibroblastic tumor in a patient with X-Linked hypophosphatemia: A case of Occam's razor or Hickam's dictum?

Urology Case Reports
We present the case of a patient with X-Linked Hypophosphatemia (XLH) and an inflammatory myofibroblastic tumor (IMT) of the bladder which prompted further investigation into the possible relationship between XLH and IMT i.e.
Farhan Chowdry, Kelsey M. Miller, Ersan Altun, Sara E. Wobker, Gary S. Gottesman, Hikmat Al-Ahmadie, Tracy L. Rose, Eric M. Wallen, Matthew I. Milowsky   +8 more
doaj   +1 more source

First-in-Human Phase I Study to Evaluate the Brain-Penetrant PI3K/mTOR Inhibitor GDC-0084 in Patients with Progressive or Recurrent High-Grade Glioma. [PDF]

, 2020
PurposeGDC-0084 is an oral, brain-penetrant small-molecule inhibitor of PI3K and mTOR. A first-in-human, phase I study was conducted in patients with recurrent high-grade glioma.Patients and methodsGDC-0084 was administered orally, once daily, to ...
Cloughesy, Timothy F, Coimbra, Alexandre F, Ellingson, Benjamin M, Gerstner, Elizabeth, Lee, Eudocia Q, Lu, Xuyang, Morrissey, Kari M, Mueller, Lars U, Olivero, Alan G, Rodon, Jordi, Wen, Patrick Y, Wilson, Timothy R   +11 more
core  

Physical function and mobility in adults with X-linked hypophosphatemia

Bone Reports, 2021
Giorgio Orlando, Shane Clarke, Matthew Roy, Robin Lachmann, Jennifer Walsh, Marian Schini, Javaid Kassim, Alex Ireland   +7 more
doaj   +1 more source

Correction to: Burosumab in X-linked hypophosphatemia: a profile of its use in the USA [PDF]

, 2018
Katherine A. Lyseng‐Williamson
openalex   +1 more source

Parathyroid hormone-related peptide and vitamin D in phosphocalcic metabolism for dromedary camel [PDF]

, 2011
In mammals, phosphocalcic and bone metabolisms are mainly regulated by parathyroïd hormone, parathyroïd hormone-related peptide (PTHrP) and 1[alpha],25-dihydroxyvitamin D or calcitriol. In camels, circulating levels of calcitriol are 10 times higher than
El Khasmi, Mohammed, Faye, Bernard
core  

Genetic diseases resulting from disordered FGF23/klotho biology [PDF]

, 2017
Econs, Michael J.
core   +1 more source

Análise de repetições em dados biológicos [PDF]

, 2010
The decoding of the genomes has created new challenges on the scientific community linked to the area of computation and information technologies.
Lousado, José, Oliveira, José
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