Results 91 to 100 of about 3,609 (206)

A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria

, 2016
Cystinuria is an inherited disease characterized by the formation of cystine calculi in the kidneys, ureters, and bladder. Cystinuria is associated with mutation in the SLC3A1 and SLC7A9 genes.
Kheirollahi, M., Koulivand, L., Mohammadi, M., Markazi, S., Doosti, A.   +4 more
core  

Comparative analysis of surgical costs vs. theoretical tiopronin therapy in pediatric cystinuria: a single-center experience from Türkiye

The Turkish Journal of Pediatrics
Background. Cystinuria is a rare autosomal recessive disorder leading to recurrent cystine stone formation, often necessitating repeated surgical interventions.
Sümeyye Sözduyar, Hilmican Ulman, Ali Tekin, İbrahim Ulman, Sibel Tiryaki   +4 more
doaj   +1 more source

Cystinuria type I: identification of eight new mutations in SLC3A1.

, 2001
BACKGROUND: Cystinuria is a heritable disorder of amino acid transport characterized by the defective transport of cystine and the dibasic amino acids through the brush border epithelial cells of the renal tubule and intestine tract.
M. Gallucci, F. Rousaud, L. Zelante, D'Adamo, Adamo P., Michele Gallucci, Manuel Palacín, Bisceglia, Luigi, Adamo P. D'Adamo, L. Bisceglia, Gallucci, Michele, Ercole Beccia, Penza, Rosa, Rousaud, Ferran, E. Beccia, Virginia Nunes, Jesús Purroy, Luigi Bisceglia, J. Purroy, GASPARINI, PAOLO, Rizzoni, Gianfranco, Paolo Gasparini, Palacín, Manuel, D'ADAMO, ADAMO PIO, Gianfranco Rizzoni, Maite Jiménez-Vidal, Leopoldo Zelante, Rosa Penza, R. Penza, V. Nunes, Jiménez-Vidal, Maite, M. Jimenez Vidal, Nunes, Virginia, G. Rizzoni, M. Palac\in, Purroy, Jesús, Ferran Rousaud, Zelante, Leopoldo, Beccia, Ercole   +37 more
core   +1 more source

Unilateral renal mucormycosis in a patient presenting with pyelonephritis and acute kidney failure: A case report

Clinical Case Reports
Key Clinical Message Unilateral renal mucormycosis is a rare infection that should be suspected in patients with recurrent renal infections presenting nonspecific clinical features that do not respond to conventional therapies, especially in impaired ...
Bahar Darouei, Mohammad Mehdi Zare, Hedie Torkashvan, Abbas Ali Torfeh Esfahani   +3 more
doaj   +1 more source

Human cystinuria-related transporter: Localization and functional characterization

, 2001
Human cystinuria-related transporter: Localization and functional characterization.BackgroundCystinuria has been proposed to be an inherited defect of apical membrane transport systems for cystine and basic amino acids in renal proximal tubules. Although
Matsuo, Hirotaka, Shigeta, Yasuhiro, Cha, Seok Ho, Fukushima, Jun-Ichi, Chairoungdua, Arthit, Kim, Do Kyung, Mizoguchi, Ken'Ichi, Kanai, Yoshikatsu, Goya, Tomoyuki, Awa, Yusuke, Ito, Haruo, Endou, Hitoshi, Akakura, Koichiro   +12 more
core   +1 more source

Treatment of Cystinuria [PDF]

BMJ, 1965
C E, DENT, M, FRIEDMAN, H, GREEN, L C, WATSON   +3 more
openaire   +5 more sources

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria

, 2001
International Cystinuria ...
PALACIN M., E. Fernandez, J. Bertran, G. Borsani, KREISS Y, a. L. George, GOLOMB E, RIBONI M, L. Zelante, BERTRAN J, M. a. Font, FELIUBADALO L, FONT M, GEORGE AL JR, ZORZANO A, L. Bisceglia, L. Feliubadalo, NUNES V, BALLABIO A, D'ADAMO AP, MANZONI, Marta, M. Manzoni, ESTIVILL X, GASPARINI P, REIG N, GASPARINI, PAOLO, BASSI MT, a. Ballabio, D'ADAMO, ADAMO PIO, M. Riboni, X. Estivill, V. Nunes, a. Zorzano, Y. Kreiss, E. Golomb, M. T. Bassi, M. Palac\in, BORSANI, Giuseppe, BISCEGLIA L, ZELANTE L, E. Pras, PRAS E, FERNANDEZ E, N. Reig   +43 more
core   +1 more source

Cystinuria [PDF]

Postgraduate Medical Journal, 1951
openaire   +2 more sources

A Novel Mutation in SLC7A9 Gene in Cystinuria

, 2017
Introduction. Cystinuria is an inherited disorder affecting luminal transport of cystine and dibasic amino acids. Because of the poor solubility of cystine in urine, stone formation in the kidney occurs frequently. Cystinuria is associated with mutations
Ashouri, Saeideh, Fazilati, Mohammad, Fazaeli, S., Kheirolahi, Majid, Mohammadi, Mehrdad   +4 more
core  

TREATMENT OF CYSTINURIA WITH CAPTOPRIL: CASE REPORT

Urology Research and Practice, 2019
Cystinuria is an autosomal recessive hereditary disorder associated with urolithiasis. Cystin stones have a high recurrens rate and are generally resistant to noninvazive treatment modalities such as shock wave lithotripsy (SWL).
B. Önal, A.U. ÖZALP, C. ÖBEK, A. Öner, A.U. Önder, V. SOLOK   +5 more
doaj   +2 more sources