Results 91 to 100 of about 4,812 (192)

Hypophosphatemic Rickets as the Etiology of Papilledema and Early Visual Field Loss from Craniosynostosis

, 2014
We report a case of papilledema and early visual field loss from craniosynostosis related to hypophosphatemic rickets in a six-year-old girl. Hypophosphatemic rickets is caused by decreased reabsorption of inorganic phosphates in the renal tubules ...
Dara M. Bier; Sara A. Simpson; Divya Khurana; Svetlana Ten; Marc J. Dinkin
core  

Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

, 2006
Hypophosphatemia due to isolated renal phosphate wasting results from a heterogeneous group of disorders. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form that is characterized by reduced renal phosphate ...
Dirk Schnabel, Wagenstaller, J., Lichtner, Peter, Anna Benet-Pages, Dov Tiosano, Eckstein, G., Schnabel, D., Ze'ev Hochberg, Yardena Tenenbaum-Rakover, Lichtner, P., Strom, Tim M., Bettina Lorenz-Depiereux, Gertrud Eckstein, Albers, Norbert, Tiosano, Dov, Gershoni-Baruch, R., Albers, N., Tim M. Strom, Gershoni-Baruch, Ruth, Janine Wagenstaller, Norbert Albers, Eckstein, Gertrud, Tenenbaum-Rakover, Yardena, Tenenbaum-Rakover, Y., Hochberg, Z., Schnabel, Dirk, Hochberg, Ze'ev, Benet-Pages, Anna, Benet-Pagès, A., Wagenstaller, Janine, Lorenz-Depiereux, B., Tiosano, D., Lorenz-Depiereux, Bettina, Ruth Gershoni-Baruch, Peter Lichtner   +34 more
core   +1 more source

Genetic analysis of three families with X-linked dominant hypophosphatemic rickets

, 2018
Background Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked dominant hypophosphatemic rickets (XLH, MIM307800), caused by
Xinfu Lin, Yaobin Zhu, Jiewei Luo, Jianbin Huang   +3 more
core   +1 more source

Pharmacological inhibition of fibroblast growth factor (FGF) receptor signaling ameliorates FGF23-mediated hypophosphatemic rickets

, 2013
Fibroblast growth factor 23 (FGF23) is a circulating factor secreted by osteocytes that is essential for phosphate homeostasis. In kidney proximal tubular cells FGF23 inhibits phosphate reabsorption and leads to decreased synthesis and enhanced ...
Sellers, W.R., Beluch, Noemie, Beluch, N., Thuery, A., Bohler, Bruno, Hofmann, Francesco, Ingold, Peter, Wöhrle, S., Hynes, N.E., Kneissel, Michaela, Guagnano, Vito, Olivier, Bonny, Sellers, William, Kneissel, M., Hofmann, F., Studer, Anne, Thuery, Anne, Henninger, Christine, Graus Porta, D., Hynes, Nancy, Bonny, O., Woehrle, Simon, Sterker, Dario, Graus Porta, Diana, Henninger, C., Stamm, Christelle, Guagnano, V.   +26 more
core   +1 more source

CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets

, 1998
CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets. This study demonstrates that a missense mutation in the voltage gated chloride channel, CLCN5, can cause X-linked renal failure ...
Vardaman M. Buckalew, Donna J. Rhodes, Conner, David A., Seidman, Jonathan G., Frederickson, Edward D., Rhodes, Donna J., Catherine L. Kelleher, Buckalew, Vardaman M., Seidman, Christine E., Christine E. Seidman, David A. Conner, Jonathan G. Seidman, Edward D. Frederickson, Kelleher, Catherine L.   +13 more
core   +1 more source

Hypophosphatemic rickets [PDF]

, 2020
openaire   +3 more sources

Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report

The Turkish Journal of Pediatrics, 1997
Epidermal nevus syndrome is characterized by congenital anomalies affecting multiple body systems, especially the skin, skeleton and central nervous system.
A Tokatli, T Coşkun, I Ozalp
doaj  

Molecular Pathogenesis of Hypophosphatemic Rickets [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2002
Suzanne M, Jan de Beur, Michael A, Levine   +1 more
openaire   +2 more sources

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.

, 1993
Human X-linked dominant hypophosphatemic rickets (HPDR I) is characterized by hypophosphatemia, hyperphosphaturia, abnormal vitamin D metabolism, and rickets/osteomalacia.
DEVOTO, MARCELLA, A. Bolino, C. Zoccali, J. Weissenbach, G. Romeo, G. Enia   +5 more
core  

The management of siblings with familial hypophosphatemic rickets

, 1983
Two siblings (boy and girl) born to a mother with familial hypophosphatemic rickets had abnormal values of serum phosphorus and serum alkaline phosphatase at the age of six weeks. At this age therapy with 1 alpha-hydroxycholecalciferol (1 alpha OHD3) and
Megreli, C., Edelstein, S., Lapatsanis, P. D., Sbyrakis, S.   +3 more
core