Results 101 to 110 of about 7,233,987 (192)

Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients [PDF]

X-linked hypophosphatemia (XLH) is the most common monogenetic cause of chronic hypophosphatemia, characterized by rickets and osteomalacia. Disease manifestations and treatment of XLH patients in the Netherlands are currently unknown. Characteristics of
van der Eerden, B. C.J., Appelman-Dijkstra, N.M., Zillikens, M.C., Bosman, A., Zillikens, M. C., van der Eerden, B. C.J.; id_orcid, de Borst, M. H., de Jongh, R. T., Borst, M.H. de, Eerden, B.C.J. van der, Boot, A.M., Ven, A.C. van de, Appelman-Dijkstra, N. M., Boot, A. M., Bökenkamp, A., van den Bergh, J. P., Jongh, R.T. de, Bergh, J.P. van den, de Borst, M. H.; id_orcid, van de Ven, A. C.   +19 more
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Iron infusion in pregnancy and dental dysplasia in children—is there a link?

Frontiers in Pediatrics
Some intravenous iron preparations cause hypophosphatemia mediated by increased fibroblast growth factor 23. This hypophosphatemia lasts for weeks or months and, when administered to pregnant women, could affect fetal tooth mineralization, which starts ...
Gabriela Amstad, Tilo Burkhardt
doaj   +1 more source

MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]

, 2011
Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Yo Niida, Akihiro Yachie
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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

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

Femoral anteversion (FNA) in individuals with X-linked hypophosphatemia (XLH)

Bone Reports, 2021
Matteo Scorcelletti, Serhan Kara, Lothar Seefried, Jochen Zange, Jörn Rittweger, Alex Ireland   +5 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

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

X-Linked Hypophosphatemia: New Horizons

Clinical Pediatric Endocrinology, 2005
X-linked hypophosphatemia (XLH) is a hypophosphatemic rachitic disorder, which occurs in one of 20,000 live births. The disease phenotype is quite variable, and many patients do not have profound signs or symptoms including rickets. Thus, XLH is sometimes called "XLH rickets without rickets".
openaire   +2 more sources

An Ethyl-Nitrosourea-Induced Point Mutation in Phex causes exon skipping, X-linked Hypophosphatemia, and Rickets

, 2002
We describe the clinical, genetic, biochemical, and molecular characterization of a mouse that arose in the ftrst generation (G 1 ) of a random mutagenesis screen with the chemical mutagen ethyl-nitrosourea.
Hanzinikolas, K (15500591), Wicks, I (15500582), Burt, R (15500594), Alexander, WS (15500597), Sims, NA (15500585), O'Donnell, K (15500588), Bahlo, M (15491759), Carpinelli, M (15500579), Simon James Foote (14736730), Hilton, DJ (15500600)   +9 more
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