Results 171 to 180 of about 4,392 (235)

A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family. [PDF]

Mol Genet Genomic Med, 2020
Li B, Wang X, Hao X, Liu Y, Wang Y, Shan C, Ao X, Liu Y, Bao H, Li P.   +9 more
europepmc   +1 more source

Mycobacterium tuberculosis complex DNA from an extinct bison dated 17,000 years before the present [PDF]

, 2001
Bar-Gal, GK, Bercovier, H, Brittain, D, Donoghue, H, Greenblatt, C, Lev, G, Martin, LD, Rothschild, BM, Spigelman, M   +8 more
core   +1 more source

[X-linked hypophosphatemic rickets].

Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 2007
openaire   +1 more source

Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives. [PDF]

Wien Med Wochenschr, 2020
Raimann A, Mindler GT, Kocijan R, Bekes K, Zwerina J, Haeusler G, Ganger R.   +6 more
europepmc   +1 more source

Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia [PDF]

, 2016
Eliane H. Dutra, Ernst J. Reichenberger, I-Ping Chen, Yaling Liu   +3 more
core   +1 more source

Four Cases of X-Linked Hypophosphatemic Rickets, Clinical Description and Genetic Testing

, 2014
David Vila-Pérez, Sílvia Marín-del-Barrio, J. Vila-Cots, Jose Antonio Camacho-Díaz, Marcos Morey, Lourdes Loidi   +5 more
openalex   +2 more sources

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

Vitamin D Metabolism in the X-linked Hypophosphatemic Rickets

, 1983
Yoshiki Seino
openalex   +2 more sources

Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors. [PDF]

J Endocr Soc, 2019
Colares Neto GP, Ide Yamauchi F, Hueb Baroni R, de Andrade Bianchi M, Cavalanti Gomes A, Chammas MC, Matsunaga Martin R.   +6 more
europepmc   +1 more source

A Case of a Patient who was Re-diagnosed with X-linked Hypophosphatemic Rickets in Adulthood Following a Dental Visit

Kaito Sato, Naoaki Hori
openalex   +2 more sources