Works matching DE "CYSTINURIA"

Results: 166

Cystinuria: the South Indian experience.

Published in:

Urological Research, 2009, v. 37, n. 6, p. 341, doi. 10.1007/s00240-009-0217-1

By:

Marickar, Y. M. Fazil

Publication type:

Article

Evaluation of cystine transport in cultured human kidney cells and establishment of cystinuria type I phenotype by antisense technology.

Published in:

Urological Research, 2008, v. 36, n. 1, p. 25, doi. 10.1007/s00240-007-0127-z

By:

Wendt-Nordahl, Gunnar;
Sagi, Sreedhar;
Bolenz, Christian;
Alken, Peter;
Michel, Maurice Stephan;
Knoll, Thomas

Publication type:

Article

The impact of new technology in the treatment of cystine stones.

Published in:

Urological Research, 2007, v. 35, n. 3, p. 129, doi. 10.1007/s00240-007-0089-1

By:

Trinchieri, Alberto;
Montanari, Emanuele;
Zanetti, Giampaolo;
Lizzano, Renata

Publication type:

Article

Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.

Published in:

Urological Research, 2006, v. 34, n. 5, p. 299, doi. 10.1007/s00240-006-0060-6

By:

Chatzikyriakidou, Anthoula;
Sofikitis, Nikolaos;
Kalfakakou, Vasiliki;
Siamopoulos, Konstantinos;
Georgiou, Ioannis

Publication type:

Article

The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.

Published in:

Urological Research, 2004, v. 32, n. 2, p. 75, doi. 10.1007/s00240-004-0405-y

By:

Schmidt, Christa;
Vester, Udo;
Hesse, Albrecht;
Lahme, Sven;
Lang, Florian;
Zerres, Klaus;
Eggermann, Thomas

Publication type:

Article

In vitro and ex vivo gene delivery into proximal tubular cells by means of laser energy—a potential approach for curing cystinuria?

Published in:

Urological Research, 2004, v. 32, n. 2, p. 129, doi. 10.1007/s00240-003-0395-1

By:

Knoll, Thomas;
Sagi, Sreedhar;
Trojan, Lutz;
Schaaf, Axel;
Alken, Peter;
Michel, Maurice Stephan

Publication type:

Article

Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.

Published in:

Urological Research, 2003, v. 31, n. 6, p. 417, doi. 10.1007/s00240-003-0366-6

By:

Fjellstedt, Erik;
Harnevik, Lotta;
Jeppsson, Jan-Olof;
Tiselius, Hans-Göran;
Söderkvist, Peter;
Denneberg, Torsten

Publication type:

Article

Cystine crystal volume determination: a useful tool in the management of cystinuric patients.

Published in:

Urological Research, 2003, v. 31, n. 3, p. 207, doi. 10.1007/s00240-003-0319-0

By:

Daudon, Michel;
Cohen-Solal, Fabrice;
Barbey, Frédéric;
Gagnadoux, Marie-France;
Knebelmann, Bertrand;
Jungers, Paul

Publication type:

Article

A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria.

Published in:

Urological Research, 2001, v. 29, n. 5, p. 295, doi. 10.1007/s002400100200

By:

Fjellstedt, Erik;
Denneberg, Torsten;
Jeppsson, Jan-Olof;
Tiselius, Hans-Göran

Publication type:

Article

Gender-related effects on urine l-cystine metastability.

Published in:

Amino Acids, 2014, v. 46, n. 2, p. 415, doi. 10.1007/s00726-013-1631-9

By:

Masotti, Andrea;
Laurenzi, Chiara;
Boenzi, Sara;
Pastore, Anna;
Taranta, Anna;
Bellomo, Francesco;
Muraca, Maurizio;
Dionisi-Vici, Carlo;
Bertucci, Pierfrancesco;
Strologo, Luca;
Emma, Francesco

Publication type:

Article

Expression of heteromeric amino acid transporters along the murine intestine.

Published in:

Journal of Physiology, 2004, v. 558, n. 2, p. 597, doi. 10.1113/jphysiol.2004.065037

By:

Dave, Mital H.;
Schulz, Nicole;
Zecevic, Marija;
Wagner, Carsten A.;
Verrey, Francois

Publication type:

Article

Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.

Published in:

Urolithiasis, 2015, v. 43, n. 5, p. 447, doi. 10.1007/s00240-015-0794-0

By:

Koulivand, Leila;
Mohammadi, Mehrdad;
Ezatpour, Behrouz;
Salehi, Rasoul;
Markazi, Samane;
Dashti, Sepideh;
Kheirollahi, Majid

Publication type:

Article

Urinary stone composition in Oman: with high incidence of cystinuria.

Published in:

Urolithiasis, 2015, v. 43, n. 3, p. 207, doi. 10.1007/s00240-015-0763-7

By:

Al-Marhoon, Mohammed;
Bayoumi, Riad;
Al-Farsi, Yahya;
Al-Hinai, Abdullhakeem;
Al-Maskary, Sultan;
Venkiteswaran, Krishna;
Al-Busaidi, Qassim;
Mathew, Josephkunju;
Rhman, Khalid;
Sharif, Omar;
Aquil, Shahid;
Al-Hashmi, Intisar

Publication type:

Article

Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formers.

Published in:

Urolithiasis, 2014, v. 42, n. 1, p. 53, doi. 10.1007/s00240-013-0621-4

By:

Modersitzki, Frank;
Pizzi, Laura;
Grasso, Michael;
Goldfarb, David

Publication type:

Article

Molecular characterization of cystinuria in south-eastern European countries.

Published in:

Urolithiasis, 2013, v. 41, n. 1, p. 21, doi. 10.1007/s00240-012-0531-x

By:

Popovska-Jankovic, Katerina;
Tasic, Velibor;
Bogdanovic, Radovan;
Miljkovic, Predrag;
Golubovic, Emilija;
Soylu, Alper;
Saraga, Marjan;
Pavicevic, Snezana;
Baskin, Esra;
Akil, Ipek;
Gregoric, Alojz;
Lilova, Marusia;
Topaloglu, Rezan;
Sukarova Stefanovska, Emilija;
Plaseska-Karanfilska, Dijana

Publication type:

Article

Nephrotic syndrome occurring during tiopronin treatment for cystinuria.

Published in:

2011

By:

Tasic, Velibor;
Lozanovski, Vladimir J.;
Ristoska-Bojkovska, Nadica;
Sahpazova, Emilija;
Gucev, Zoran

Publication type:

journal article

Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1029, doi. 10.1038/sj.ejhg.5201881

By:

Martens, Kevin;
Heulens, Inge;
Meulemans, Sandra;
Zaffanello, Marco;
Tilstra, David;
Hes, Frederik J.;
Rooman, Raoul;
François, Inge;
de Zegher, Francis;
Jaeken, Jaak;
Matthijs, Gert;
Creemers, John W. M.

Publication type:

Article

Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study.

Published in:

Journal of Research in Medical Sciences, 2017, v. 22, p. 1, doi. 10.4103/1735-1995.202149

By:

Markazi, Samaneh;
Doosti, Abbas;
Kheirollahi, Majid;
Mohammadi, Mehrdad

Publication type:

Article

Foetal hyper-echogenic colon as an early sign of cystinuria.

Published in:

2011

By:

Costa, A. Cobo;
Yanes, M.I. Luis;
Pérez, A.I. Padilla;
M. Álvarez de la Rosa;
García Nieto, V. M.;
Luque, J. M. Troyano

Publication type:

Case Study

Case Study Case Studies in Cystinuria.

Published in:

Urologic Nursing, 2017, v. 37, n. 2, p. 90, doi. 10.7257/1053-816X.2017.37.2.90

By:

Goldfarb, David S.;
Grasso, Michael

Publication type:

Article

Early Recognition and Management Of Rare Kidney Stone Disorders.

Published in:

Urologic Nursing, 2017, v. 37, n. 2, p. 81, doi. 10.7257/1053-816X.2017.37.2.81

By:

Goldstein, Ross;
Goldfarb, David S.

Publication type:

Article

Novel Kinetic Spectrophotometric Method for Determination of Tiopronin [N-(2-Mercaptopropionyl)-Glycine].

Published in:

Croatica Chemica Acta, 2010, v. 83, n. 2, p. 189

By:

Kukoc-Modun, Lea;
Radić, Njegomir

Publication type:

Article

Production of Synthetic Methionine-Free and Synthetic Methionine-Limited Alpha Casein: Protein Foodstuff for Patients with Homocystinuria due to Cystathionine Beta-Synthase Deficiency.

Published in:

Protein Journal, 2010, v. 29, n. 1, p. 44, doi. 10.1007/s10930-009-9219-7

By:

Sayed Goda;
Yasmin Abu Aqel;
Mai Al-Aswad;
Fatma Rashedy;
Amr Mohamed

Publication type:

Article

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Published in:

Nature Genetics, 1999, v. 23, n. 1, p. 52

By:

Feliubadaló, Lídia;
Font, Mariona;
Purroy, Jesús;
Rousaud, Ferran;
Estivill, Xavier;
Nunes, Virginia;
Golomb, Eliahu;
Centola, Michael;
Aksentijevich, Ivona;
Kreiss, Yitshak;
Goldman, Boleslaw;
Pras, Mordechai;
Kastner, Daniel L.;
Pras, Elon;
Gasparini, Paolo;
Bisceglia, Luigi;
Beccia, Ercole;
Gallucci, Michele;
de Sanctis, Luisa

Publication type:

Article

Pseudoxanthoma elasticum-like skin changes induced by pecnicillamine.

Published in:

Journal of the Royal Society of Medicine, 1984, v. 77, n. 9, p. 794, doi. 10.1177/014107688407700917

By:

Thomas, R. H. Meyrick;
Light, N.;
Avery, N. C.;
Stephens, A. D.;
Kirby, J. D. T.

Publication type:

Article

Diagnostic Significance of Urinary Thiodiglycolic Acid as a Possible Tool for Studying the Role of Vitamins B12 and Folates in the Metabolism of Thiolic Substances.

Published in:

Physiological Research, 2007, v. 56, n. 1, p. 113, doi. 10.33549/physiolres.930902

By:

Navrátil, T.;
Petr, M.;
Šenholdová, Z.;
Přistoupilová, K.;
Přistoupil, T. I.;
Heyrovský, M.;
Pelclová, D.;
Kohlíková, E.

Publication type:

Article

Homocystinuria due to cystathionine β-synthase deficiency associated with megaloblastic anaemia.

Published in:

Journal of Internal Medicine, 2001, v. 250, n. 5, p. 453, doi. 10.1046/j.1365-2796.2001.00811.x

By:

Ishida, S.;
Isotani, H.;
Furukawa, K.;
Kuhara, T.

Publication type:

Article

How to perform metabolic evaluation in stone formers.

Published in:

Urology Times, 2004, v. 32, n. 1, p. 26

By:

Matlaga, Brian R.;
Assimos, Dean G.;
Andriole, Gerald L.

Publication type:

Article

Aggressive management recommended for cystinurics.

Published in:

Urology Times, 2001, v. 29, n. 4, p. 26

By:

Desai, Mihir

Publication type:

Article

Acalculus cystinuria doesn't need medical therapy.

Published in:

Urology Times, 1996, v. 24, n. 11, p. 5

By:

Newman, Laura

Publication type:

Article

The ancillary proteins of HATs: SLC3 family of amino acid transporters.

Published in:

Pflügers Archiv: European Journal of Physiology, 2004, v. 447, n. 5, p. 490, doi. 10.1007/s00424-003-1062-7

By:

Palacín, Manuel;
Kanai, Yoshikatsu

Publication type:

Article

CATs and HATs: the SLC7 family of amino acid transporters.

Published in:

Pflügers Archiv: European Journal of Physiology, 2004, v. 447, n. 5, p. 532, doi. 10.1007/s00424-003-1086-z

By:

Verrey, François;
Closs, Ellen I.;
Wagner, Carsten A.;
Palacin, Manuel;
Endou, Hitoshi;
Kanai, Yoshikatsu

Publication type:

Article

Collagen and elastin changes in D-penicillamine-induced pseudoxanthoma elasticum-like skin.

Published in:

British Journal of Dermatology, 1986, v. 114, n. 3, p. 381, doi. 10.1111/j.1365-2133.1986.tb02832.x

By:

Light, N.;
Thomas, R. H. Meyrick;
Stephens, A.;
Kirby, J. D. T.;
Fryer, P. R.;
Avery, N. C. A.

Publication type:

Article

(35) Elastosis perforans serpiginosa after penicillamine for cystrinuria.

Published in:

1983

By:

Marston, Sylvie;
Cream, J. J.

Publication type:

Case Study

Brief Communications.

Published in:

British Journal of Dermatology, 1976, v. 95, n. 1, p. 99

By:

Tan, S. G.;
Rowell, N. R.;
Newbold, Peter C. H.;
Orfanos, C. E.;
Runne, U.

Publication type:

Article

Homocystinuria Due to Cystathionine Synthase Deficiency.

Published in:: Annals of Internal Medicine, 1965, v. 63, n. 6, p. 1117, doi. 10.7326/0003-4819-63-6-1117
Publication type:: Article

Disorders of Amino Acid Transport.

Published in:

Annals of Internal Medicine, 1965, v. 62, n. 4, p. 847, doi. 10.7326/0003-4819-62-4-847

By:

Segal, Stanton

Publication type:

Article

Cystinuria.

Published in:

Annals of Internal Medicine, 1965, v. 62, n. 4, p. 796

By:

Lotz, Myron;
Thier, Samuel;
Rosenberg, Leon E.;
Potts Jr., John T.;
Bartter, Frederic C.

Publication type:

Article

An Animal Model of Type A Cystinuria Due to Spontaneous Mutation in 129S2/SvPasCrl Mice.

Published in:

PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102700

By:

Livrozet, Marine;
Vandermeersch, Sophie;
Mesnard, Laurent;
Thioulouse, Elizabeth;
Jaubert, Jean;
Boffa, Jean-Jacques;
Haymann, Jean-Philippe;
Baud, Laurent;
Bazin, Dominique;
Daudon, Michel;
Letavernier, Emmanuel

Publication type:

Article

Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice.

Published in:

PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089160

By:

Lone, Anna Mari;
Leidl, Mathias;
McFedries, Amanda K.;
Horner, James W.;
Creemers, John;
Saghatelian, Alan

Publication type:

Article

Contact allergy to d-penicillamine.

Published in:

1990

By:

Coenraads, P. J.;
Wofst, T. E.;
Blanksma, C. J.;
Houtman, W. A.

Publication type:

Case Study

Natural history and quality of life in patients with cystine urolithiasis: a single centre study.

Published in:

BJU International, 2015, v. 116, p. 31, doi. 10.1111/bju.13169

By:

Parr, Justin M.;
Desai, Devang;
Winkle, David

Publication type:

Article

The genetic diversity of cystinuria in a UK population of patients.

Published in:

BJU International, 2015, v. 116, n. 1, p. 109, doi. 10.1111/bju.12894

By:

Wong, Kathie A.;
Mein, Rachael;
Wass, Mark;
Flinter, Frances;
Pardy, Caroline;
Bultitude, Matthew;
Thomas, Kay

Publication type:

Article

Laterality of nephrocalcinosis in kidney stone formers with severe hypocitraturia.

Published in:

BJU International, 2011, v. 107, n. 1, p. 106, doi. 10.1111/j.1464-410X.2010.09492.x

By:

Le, Jesse D.;
Eisner, Brian H.;
Tseng, Timothy Y.;
Chi, Thomas;
Stoller, Marshall L.

Publication type:

Article

Elastosis perforans serpiginosa and pseudoxanthoma elasticum-like skin changes due to D-penicillamine.

Published in:

Clinical & Experimental Dermatology, 1985, v. 10, n. 4, p. 386, doi. 10.1111/j.1365-2230.1985.tb00588.x

By:

Thomas, R. H. Meyrick;
Kirby, J. D. T.

Publication type:

Article

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 632, doi. 10.1111/cge.13079

By:

Tostivint, I.;
Royer, N.;
Nicolas, M.;
Bourillon, A.;
Czerkiewicz, I.;
Becker, P.-H.;
Muller, F.;
Benoist, J.-F.

Publication type:

Article

Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients.

Published in:

Clinical Genetics, 2012, v. 81, n. 1, p. 47, doi. 10.1111/j.1399-0004.2011.01638.x

By:

Barbosa, M;
Lopes, A;
Mota, C;
Martins, E;
Oliveira, J;
Alves, S;
De Bonis, P;
do Céu Mota, M;
Dias, C;
Rodrigues-Santos, P;
Fortuna, AM;
Quelhas, D;
Lacerda, L;
Bisceglia, L;
Cardoso, ML

Publication type:

Article

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

Published in:

2007

By:

Eggermanna, T.;
Elbrachta, M.;
Haverkamp, F.;
Schmidta, C.;
Zerresa, K.

Publication type:

Letter

Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.

Published in:

Clinical Laboratory, 2018, v. 64, n. 7/8, p. 1145, doi. 10.7754/Clin.Lab.2018.180110

By:

Yan-Yan Ma;
Yu-Peng Liu;
Dongxiao Li;
Xi-Yuan Li;
Jin-Qing Song;
Yan-Ling Yang

Publication type:

Article

Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.

Published in:

Journal of Genetics, 2011, v. 90, n. 1, p. 157, doi. 10.1007/s12041-011-0045-2

By:

Gucev, Zoran;
Ristoska-Bojkovska, Nadica;
Popovska-Jankovic, Katerina;
Sukarova-Stefanovska, Emilija;
Tasic, Velibor;
Plaseska-Karanfilska, Dijana;
Efremov, Georgi

Publication type:

Article