Results 131 to 140 of about 6,097 (205)

Familial Cystinuria [PDF]

BMJ, 1953
openaire   +2 more sources

8-l-Cystinyl Bis(1,8-diazaspiro[4.5]decane) as an Orally Bioavailable l-Cystine Crystallization Inhibitor for Cystinuria. [PDF]

ACS Med Chem Lett
Hu L, Albanyan H, Yang J, Wang Y, Yang M, Tan X, Zhong X, Ward MD, Sahota A.   +8 more
europepmc   +1 more source

Bases moleculars de la cistinúria [PDF]

, 1995
Calonge Coch, María Júlia, Chillarón Chaves, José Julio, Estévez, J., Mora, C., Palacín, Manuel, Testar, Xavier, Torrents, D., Zorzano, Antonio   +7 more
core  

MP13-08 GENOTYPING IN CYSTINURIA – DO FIRST DEGREE RELATIVES SHARE A SIMILAR PHENOTYPE? [PDF]

, 2018
Francesca Kum, Kathie Wong, Rachel Mein, Matthew Bultitude, Kay Thomas   +4 more
openalex   +1 more source

Prevalence and characteristics of genetic disease in adult kidney stone formers. [PDF]

Nephrol Dial Transplant
Anderegg MA, Olinger EG, Bargagli M, Geraghty R, Taylor L, Nater A, Bruggmann R, Sayer JA, Vogt B, Schaller A, Fuster DG.   +10 more
europepmc   +1 more source

PD03-03 GENOTYPE CLASSIFICATION BASED ON THE MULTIPLE CYSTINE RELATED TRANSPORTERS IN JAPANESE CYSTINURIA PATIENTS [PDF]

, 2018
Shinichi Sakamoto, Akinori Takei, Tomohiro Tamura, Masaaki Fujimura, Yasuhiro Shigeta, Yusuke Imamura, Hitoshi Yano, Yukio Naya, Kôji Kawamura, Takashi Imamoto, Akira Komiya, Koichiro Akakura, Tomohiko Ichikawa   +12 more
openalex   +1 more source

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter

, 2006
Yasuteru Shigeta, Yoshikatsu Kanai, Arthit Chairoungdua, Nesar Ahmed, Shinichi Sakamoto, Hirotaka Matsuo, D.K. Kim, Masaaki Fujimura, Naohiko Anzai, Kana Mizoguchi, Takeshi Ueda, Koichiro Akakura, Tomohiko Ichikawa, Hidenori Ito, Hitoshi Endou   +14 more
openalex   +1 more source

Innentitelbild: A Dynamic Chemical Network for Cystinuria Diagnosis (Angew. Chem. 28/2018) [PDF]

, 2018
María Esther Vaquero Lafuente, Jordi Solà, Ignacio Alfonso   +2 more
openalex   +1 more source

Characteristics and Yield of Modern Approaches for the Diagnosis of Genetic Causes of Kidney Stone Disease. [PDF]

Genes (Basel)
Spasiano A, Treccani M, De Tomi E, Malerba G, Gambaro G, Ferraro PM.   +5 more
europepmc   +1 more source

A new Principle of Thyroxine (T4) and Triiodo-thyronin (T3) Radioimmunoassay in unextracted Serum using Antisera with binding Optima at extreme pH ranges [PDF]

, 1980
Gärtner, Roland, Horn, K., Kewenig, R. M., Scriba, Peter Christian   +3 more
core