Works matching DE "CYSTINURIA"

Results: 166

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

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

Published in:

Kidney International, 2006, v. 69, n. 7, p. 1198, doi. 10.1038/sj.ki.5000241

By:

Shigeta, Y.;
Kanai, Y.;
Chairoungdua, A.;
Ahmed, N.;
Sakamoto, S.;
Matsuo, H.;
Kim, D. K.;
Fujimura, M.;
Anzai, N.;
Mizoguchi, K.;
Ueda, T.;
Akakura, K.;
Ichikawa, T.;
Ito, H.;
Endou, H.

Publication type:

Article

Urinary cystine excretion and capacity in patients with cystinuria.

Published in:

Kidney International, 2006, v. 69, n. 6, p. 1041, doi. 10.1038/sj.ki.5000104

By:

Goldfarb, D. S.;
Coe, F. L.;
Asplin, J. R.

Publication type:

Article

Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.

Published in:

Kidney International, 2006, v. 69, n. 1, p. 123, doi. 10.1038/sj.ki.5000003

By:

Yuen, Y. -P.;
Lam, C. -W.;
Lai, C. -K.;
Tong, S. -F.;
Li, P. -S.;
Tam, S.;
Kwan, E. Y. -W.;
Chan, S. -Y.;
Tsang, W. -K.;
Chan, K. -Y.;
Mak, W. -L.;
Cheng, C. -W.;
Chan, Y. -W.

Publication type:

Article

Transient neonatal cystinuria.

Published in:

2005

By:

Boutros, Marylise;
Vicanek, Caroline;
Rozen, Rima;
Goodyer, Paul

Publication type:

journal article

The amino acid transporter asc-1 is not involved in cystinuria.

Published in:

2004

By:

Pineda, Marta;
Font, Mariona;
Bassi, Maria Teresa;
Manzoni, Marta;
Borsani, Giuseppe;
Marigo, Valeria;
Fernandez, Esperanza;
Del Rio, Rafael Martin;
Purroy, Jesus;
Zorzano, Antonio;
Nunes, Virginia;
Palacin, Manuel;
Fernández, Esperanza;
Río, Rafael Martín del;
Purroy, Jesús;
Palacín, Manuel

Publication type:

journal article

SLC7A9 mutations in all three cystinuria subtypes.

Published in:

Kidney International, 2002, v. 62, n. 5, p. 1550, doi. 10.1046/j.1523-1755.2002.00602.x

By:

Leclerc, Daniel;
Boutros, Marylise;
Suh, Daniel;
Wu, Qing;
Palacin, Manuel;
Ellis, James R.;
Goodyer, Paul;
Rozen, Rima

Publication type:

Article

Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

Published in:

Kidney International, 2002, v. 62, n. 4, p. 1136, doi. 10.1046/j.1523-1755.2002.00552.x

By:

Botzenhart, Elke;
Vester, Udo;
Schmidt, Christa;
Hesse, Albrecht;
Halber, Marc;
Wagner, Carsten;
Lang, Florian;
Hoyer, Peter;
Zerres, Klaus;
Eggermann, Thomas

Publication type:

Article

Human cystinuria-related transporter: Localization and functional characterization.

Published in:

Kidney International, 2001, v. 59, n. 5, p. 1821, doi. 10.1046/j.1523-1755.2001.0590051821.x

By:

Mizoguchi, Ken'Ichi;
Cha, Seok Ho;
Chairoungdua, Arthit;
Kim, Do Kyung;
Shigeta, Yasuhiro;
Matsuo, Hirotaka;
Fukushima, Jun-Ichi;
Awa, Yusuke;
Akakura, Koichiro;
Goya, Tomoyuki;
Ito, Haruo;
Endou, Hitoshi;
Kanai, Yoshikatsu

Publication type:

Article

Causality between myopathic hypotonia-cystinuria syndrome (HCS) and noncompaction (LVHT) is not compelling.

Published in:

2018

By:

Finsterer, Josef;
Stöllberger, Claudia

Publication type:

Letter to the Editor

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

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

SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria.

Published in:

Mammalian Genome, 2006, v. 17, n. 7, p. 769, doi. 10.1007/s00335-005-0146-4

By:

Harnevik, Lotta;
Hoppe, Astrid;
Söderkvist, Peter

Publication type:

Article

Comparison of renal function and metabolic abnormalities of cystine stone patients and calcium oxalate stone patients in China.

Published in:

World Journal of Urology, 2013, v. 31, n. 5, p. 1219, doi. 10.1007/s00345-012-0886-1

By:

Shen, Luming;
Sun, Xizhao;
Zhu, Huaijun;
Cong, Xiaoming;
Ning, Benxiang

Publication type:

Article

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

Investigation and management of renal stone disease.

Published in:

Nephrology Dialysis Transplantation, 2017, v. 32, n. 12, p. 1984, doi. 10.1093/ndt/gfx306

By:

Mabillard, Holly R.;
Tomson, Charles R. V.

Publication type:

Article

When to suspect a genetic disorder in a patient with renal stones, and why.

Published in:

Nephrology Dialysis Transplantation, 2013, v. 28, n. 4, p. 811, doi. 10.1093/ndt/gfs545

By:

Ferraro, Pietro Manuel;
D'Addessi, Alessandro;
Gambaro, Giovanni

Publication type:

Article

Comparative study of microcystin-LR-induced behavioral changes of two fish species, Danio rerio and Leucaspius delineatus.

Published in:

Environmental Toxicology, 2004, v. 19, n. 6, p. 564, doi. 10.1002/tox.20063

By:

Daniela Baganz;
Georg Staaks;
Stephan Pflugmacher;
Christian E. W. Steinberg

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

Laparoscopic vs open living donor nephrectomy: a contemporary series from one centre.

Published in:

BJU International, 2006, v. 98, n. 1, p. 133, doi. 10.1111/j.1464-410X.2006.06265.x

By:

POWER, RICHARD E.;
PRESTON, JOHN M.;
GRIFFIN, ANTHONY;
MARTIN, IAN;
WALL, DARYL R.;
NICOL, DAVID L.

Publication type:

Article

Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis.

Published in:

BJU International, 2006, v. 97, n. 6, p. 1285, doi. 10.1111/j.1464-410X.2006.06169.x

By:

Worcester, Elaine M.;
Coe, Fredric L.;
Evan, Andrew P.;
Parks, Joan H.

Publication type:

Article

Untargeted metabolomic analysis of urine samples in the diagnosis of some inherited metabolic disorders.

Published in:

Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2015, v. 159, n. 4, p. 582, doi. 10.5507/bp.2014.048

By:

Janeckova, Hana;
Kalivodova, Alzbeta;
Najdekr, Lukas;
Friedecky, David;
Hron, Karel;
Bruheim, Per;
Adam, Tomas

Publication type:

Article

Can prenatal renal pelvicalyceal echogenic foci support the diagnosis of cystinuria?

Published in:

Journal of the Turkish-German Gynecological Association, 2022, v. 23, n. 4, p. 327, doi. 10.4274/jtgga.galenos.2022.2021-11-5

By:

Şeker, Erdal;
Süt, Hasan;
Özışık, Seçkin;
Koç, Acar

Publication type:

Article

Cystine calculi: challenging group of stones.

Published in:

Postgraduate Medical Journal, 2006, v. 82, n. 974, p. 799, doi. 10.1136/pgmj.2005.044156

By:

Ahmed, Kamran;
Dasgupta, Prokar;
Khan, Mohammad Shamim

Publication type:

Article

Cystinuria in a group of children in Iraq.

Published in:

Iraqi Journal of Medical Sciences, 2009, v. 7, n. 2, p. 26

By:

Ali, Shatha Hussain

Publication type:

Article

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

Published in:

BMC Genomics, 2017, v. 18, p. 47, doi. 10.1186/s12864-017-3913-1

By:

Martell, Henry J.;
Wong, Kathie A.;
Martin, Juan F.;
Kassam, Ziyan;
Thomas, Kay;
Wass, Mark N.

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

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

An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.

Published in:

British Journal of Clinical Pharmacology, 2002, v. 54, n. 2, p. 140, doi. 10.1046/j.1365-2125.2002.01620.x

By:

Matthews, Angela;
Johnson, Trevor N.;
Rostami-Hodjegan, Amin;
Chakrapani, Anupam;
Wraith, J. Edward;
Moat, Stuart J.;
Bonham, James R.;
Tucker, Geoffrey T.

Publication type:

Article

Penicillamine Revisited: Historic Overview and Review of the Clinical Uses and Cutaneous Adverse Effects.

Published in:

American Journal of Clinical Dermatology, 2013, v. 14, n. 3, p. 223, doi. 10.1007/s40257-013-0022-z

By:

Ishak, Rim;
Abbas, Ossama

Publication type:

Article

Clinical Outcomes for Cystinuria Patients with Unilateral Versus Bilateral Cystine Stone Disease.

Published in:

Journal of Endourology, 2018, v. 32, n. 2, p. 148, doi. 10.1089/end.2017.0335

By:

Usawachintachit, Manint;
Sherer, Benjamin;
Hudnall, Matthew;
Tzou, David T.;
Taguchi, Kazumi;
Hsi, Ryan S.;
Stoller, Marshall;
Chi, Thomas

Publication type:

Article

Cystine Stone Formers Have Impaired Health-Related Quality of Life Compared with Noncystine Stone Formers: A Case-Referent Study Piloting the Wisconsin Stone Quality of Life Questionnaire Among Patients with Cystine Stones.

Published in:

Journal of Endourology, 2017, v. 31, p. S-48, doi. 10.1089/end.2016.0564

By:

Streeper, Necole M.;
Wertheim, Margaret L.;
Nakada, Stephen Y.;
Penniston, Kristina L.

Publication type:

Article

Can the Presence of Crystalluria Predict Stone Formation in Patients with Cystinuria?

Published in:

Journal of Endourology, 2016, v. 30, n. 5, p. 609, doi. 10.1089/end.2015.0692

By:

Wong, Kathie A.;
Pardy, Caroline;
Pillay, Soma;
Athanasiou, Thanos;
Rottenberg, Giles;
Bultitude, Matthew;
Chandra, Ashish;
Thomas, Kay

Publication type:

Article

Effect of Cystine-Binding Thiol Drugs on Urinary Cystine Capacity in Patients with Cystinuria.

Published in:

Journal of Endourology, 2005, v. 19, n. 3, p. 429, doi. 10.1089/end.2005.19.429

By:

Daniele J. Dolin;
John R. Asplin;
Leigh Flagel;
Michael Grasso;
David S. Goldfarb

Publication type:

Article

Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations.

Published in:

Nutrients, 2023, v. 15, n. 3, p. 728, doi. 10.3390/nu15030728

By:

Injeyan, Maud;
Bidault, Valeska;
Bacchetta, Justine;
Bertholet-Thomas, Aurélia

Publication type:

Article

The Impact of Diet on Urinary Risk Factors for Cystine Stone Formation.

Published in:

Nutrients, 2021, v. 13, n. 2, p. 528, doi. 10.3390/nu13020528

By:

Siener, Roswitha;
Bitterlich, Norman;
Birwé, Hubert;
Hesse, Albrecht;
Cupisti, Adamasco

Publication type:

Article

Miscellanea.

Published in:: Clinical Chemistry & Laboratory Medicine, 2008, v. 46, p. S429, doi. 10.1515/CCLM.2008.417
Publication type:: Article

A Novel Mutation in SLC7A9 Gene in Cystinuria.

Published in:

2017

By:

Fazaeli, Saeedeh;
Ashouri, Saeideh;
Kheirolahi, Majid;
Mohammadi, Mehrdad;
Fazilati, Mohammad;
Kheirollahi, Majid

Publication type:

journal article

A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.

Published in:

2016

By:

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

Publication type:

journal article

Cystinuria in a Patient With a Novel Mutation in SLC7A9 Gene.

Published in:

Iranian Journal of Kidney Diseases, 2015, v. 9, n. 1, p. 63

By:

Koulivand, Leila;
Mohammadi, Mehrdad;
Ezatpour, Behrouz;
Kheirollahi, Majid

Publication type:

Article

Predisposing Factors for Infantile Urinary Calculus in South-West of Iran.

Published in:

Iranian Journal of Kidney Diseases, 2014, v. 8, n. 1, p. 53

By:

Alemzadeh-Ansari, Mohammad Hasan;
Valavi, Ehsan;
Ahmadzadeh, Ali

Publication type:

Article