Results 131 to 140 of about 11,040 (189)

Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series. [PDF]

Endocrinol Diabetes Metab Case Rep
Al-Juraibah F, Al Shaikh A, Al-Sagheir A, Babiker A, Al Nuaimi A, Al Enezi A, Mikhail GS, Mundi HA, Penninckx HK, Mustafa H, Al Ameri M, Al-Dubayee M, Ali NS, Fawzy N, Al Shammari S, Fiad T.   +15 more
europepmc   +1 more source

Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria. [PDF]

Genes Dis
Sun Y, Liu Y, Zhang X, Jiang L.
europepmc   +1 more source

X-linked hypophosphatemic rickets: from diagnosis to management. [PDF]

Clin Exp Pediatr
Park E, Kang HG.
europepmc   +1 more source

Familial hypophosphatemic rickets

, 2012
openaire   +1 more source

Erratum to "An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)." Kidney International 2023;105:1058-1076. [PDF]

Kidney Int
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C.   +27 more
europepmc   +1 more source

An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). [PDF]

Kidney Int
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C.   +27 more
europepmc   +1 more source

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.

J Clin Endocrinol Metab
Wu H, Ying H, Zhao W, Sun Y, Wang Y, Chen X, Li G, Yao Y, Xu S, Li T, Fang L, Sun X, Wang N, Xu J, Guan Q, Xia W, Wang L, Gao L, Zhao J, Xu C.   +19 more
europepmc   +1 more source

Hypophosphatemic rickets with hypercalciuria.

Indian pediatrics, 1996
A, Bagga, P, Hari, A S, Vasudev, A, Sharma, R N, Srivastava   +4 more
openaire   +1 more source