Results 91 to 100 of about 1,497 (161)

Long-term recombinant human growth hormone therapy in Dent’s disease type 1

Endokrynologia Polska
Not required for Clinical Vignette.
Miao Huang, Guoqing Dong, Yongmei Zeng, Fan Wu, Peipei Liu, Xiyan Lu   +5 more
doaj   +1 more source

Dent’s disease: case series from a single center

The Turkish Journal of Pediatrics
Background. Dent’s disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease.
Hilal Yaşar, Emre Leventoğlu, Bahar Büyükkaragöz, Kibriya Fidan, Sevcan A. Bakkaloğlu, Oğuz Söylemezoğlu   +5 more
doaj   +1 more source

A sibling with Dent disease without mutations of OCRL1 and CLCN5

Nihon Shoni Jinzobyo Gakkai Zasshi, 2011
Kimata, Takahisa, Hasui, Masahumi, Yamasita, Miyoko, Kaneko, Kazunari, Nozu, Kandai, Iijima, Kazumoto   +5 more
openaire   +2 more sources

Genetic Screening of Patients With Inherited Fanconi Syndrome. [PDF]

Kidney Int Rep
Inoki Y, Sakakibara N, Yamamoto A, Kimura Y, Aoyama S, Kondo A, Hanafusa H, Horinouchi T, Yamamura T, Nagano C, Ishimori S, Asato S, Fukuda A, Hashimoto S, Murase T, Nagatani K, Nakaya I, Okamoto T, Takayanagi S, Tanaka H, Tsugawa K, Tsukamoto T, Yamada T, Yamamoto M, Nozu K.   +24 more
europepmc   +1 more source

CLCN5 inhibits tumorigenesis and fatty acid accumulation in clear cell renal cell carcinoma by regulating Enoyl CoA hydratase and 3-Hydroxyacyl CoA dehydrogenase. [PDF]

Int J Med Sci
Yu T, Li W, Meng X, Yang W, Ruan H, Xiao W, Zhang X.   +6 more
europepmc   +1 more source

Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians. [PDF]

Int J Mol Sci
Vecino-Pérez M, García-Murias M, Carrera N, Pedrosa P, García-González MÁ.   +4 more
europepmc   +1 more source

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report. [PDF]

Case Rep Nephrol Dial
Del Prete D, Ceol M, Giannella A, Ceolotto G, Sgrò E, Priante G, Fedrigo M, Anglani F, Nalesso F.   +8 more
europepmc   +1 more source

Genetic background of infantile hypophosphatemia: a narrative review. [PDF]

Transl Pediatr
Zeng X, Hu L.
europepmc   +1 more source

Phenotype and genotype analyses of 21 Chinese patients with Dent disease. [PDF]

J Biomed Res
Che R, Cai Y, Zhou W, Zhao S, Huang S.
europepmc   +1 more source

Bioinformatics analysis of a <i>CLCN5</i> geneframeshift mutation in a patient with Dent disease. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Zhang Y, Li N, Fan L, Liu J.
europepmc   +1 more source