Works matching DE "CYSTINURIA"

Results: 166

Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype.

Published in:

Clinical Nephrology, 2006, v. 65, n. 4, p. 262, doi. 10.5414/CNP65262

By:

Brauers, E.;
Schmidt, C.;
Zerres, K.;
Eggermann, T.

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

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

Cystinuria: An Overview of Diagnosis and Medical Management.

Published in:

Turkish Archives of Pediatrics, 2022, v. 57, n. 4, p. 377, doi. 10.5152/TurkArchPediatr.2022.22105

By:

Sadiq, Sanober;
Cil, Onur

Publication type:

Article

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 373, doi. 10.1002/mgg3.294

By:

Gaildrat, Pascaline;
Lebbah, Said;
Tebani, Abdellah;
Sudrié‐Arnaud, Bénédicte;
Tostivint, Isabelle;
Bollee, Guillaume;
Tubeuf, Hélène;
Charles, Thomas;
Bertholet‐Thomas, Aurelia;
Goldenberg, Alice;
Barbey, Frederic;
Martins, Alexandra;
Saugier‐Veber, Pascale;
Frébourg, Thierry;
Knebelmann, Bertrand;
Bekri, Soumeya

Publication type:

Article

Clinical and histological spectrum of elastotic changes induced by penicillamine.

Published in:

Australasian Journal of Dermatology, 2002, v. 43, n. 2, p. 147, doi. 10.1046/j.1440-0960.2002.00580.x

By:

Poon, Eric;
Mason, Graham H;
Oh, Chris

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

Cystinuria and Dermatomyositis.

Published in:

Clinical Pediatrics, 1970, v. 9, n. 12, p. 727, doi. 10.1177/000992287000901215

By:

Fawcett, Nancy P.;
Nyhan, William L.

Publication type:

Article

Penicillamine: Twenty-Five Years Later.

Published in:

Annals of Internal Medicine, 1980, v. 93, n. 2, p. 367, doi. 10.7326/0003-4819-93-2-367

By:

Crawhall, John C.

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

Therapy modifies cystine kidney stones at the macroscopic scale. Do such alterations exist at the mesoscopic and nanometre scale?

Published in:

Journal of Applied Crystallography, 2014, v. 47, n. 2, p. 719, doi. 10.1107/S1600576714004658

By:

Bazin, Dominique;
Daudon, Michel;
André, Gilles;
Weil, Raphael;
Véron, Emmanuel;
Matzen, Guy

Publication type:

Article

Molecular Genetic Analysis of SLC3A1 and SLC7A9 Genes in Czech and Slovak Cystinuric Patients.

Published in:

Annals of Human Genetics, 2005, v. 69, n. 5, p. 501, doi. 10.1111/j.1529-8817.2005.00185.x

By:

Škopková, Z.;
Hrabincová, E.;
Štástná, S.;
Koz#x00E1;k, L.;
Adam, T.

Publication type:

Article

Feline Cystinuria Caused by a Missense Mutation in the SLC3A1 Gene.

Published in:

Journal of Veterinary Internal Medicine, 2015, v. 29, n. 1, p. 120, doi. 10.1111/jvim.12501

By:

Mizukami, K.;
Raj, K.;
Giger, U.

Publication type:

Article

SLC3A1 and SLC7A9 Mutations in Autosomal Recessive or Dominant Canine Cystinuria: A New Classification System.

Published in:

Journal of Veterinary Internal Medicine, 2013, v. 27, n. 6, p. 1400, doi. 10.1111/jvim.12176

By:

Brons, A.‐K.;
Henthorn, P.S.;
Raj, K.;
Fitzgerald, C.A.;
Liu, J.;
Sewell, A.C.;
Giger, U.

Publication type:

Article

Giant Pseudoaneurysm of the External Pudendal Artery Associated with Homocystinuria: A Case Report.

Published in:

Vascular Surgery, 1991, v. 25, n. 2, p. 151, doi. 10.1177/153857449102500211

By:

O'Laughlin, Richard L.;
Sniekus, Peter;
Esposito, William J.

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

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

Type I cystinuria and its genetic basis in a population of Turkish school children.

Published in:

International Journal of Urology, 2007, v. 14, n. 10, p. 914, doi. 10.1111/j.1442-2042.2007.01852.x

By:

Tanzer, Fatos;
Ozgur, Arzu;
Bardakci, Fevzi

Publication type:

Article

Analysis of a 1-year-old cystinuric patient with recurrent renal stones.

Published in:

International Journal of Urology, 2006, v. 13, n. 10, p. 1347, doi. 10.1111/j.1442-2042.2006.01550.x

By:

Tanzer, Fatos;
Ozgur, Arzu;
Bardakci, Fevzi;
Cankorkmaz, Levent;
Ayan, Semih

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

Cystinuria in a 13-Month-Old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes.

Published in:

Indian Journal of Nephrology, 2018, v. 28, n. 6, p. 490, doi. 10.4103/ijn.IJN_46_18

By:

Al-Mendalawi, M. D.

Publication type:

Article

Cystinuria in a 13-month-old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes.

Published in:

Indian Journal of Nephrology, 2018, v. 28, n. 1, p. 84, doi. 10.4103/ijn.IJN_20_17

By:

Krishnamurthy, S.;
Pavani, C.;
Kurup, P. M.;
Palanisamy, S.;
Jagadeesh, A.;
Sekar, K.;
Mahadevan, S.;
Bisceglia, L.

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

CYSTINE, METHIONINE AND SULPHATE EXCRETION IN CYSTINURIA.

Published in:

Australian Journal of Experimental Biology & Medical Science, 1951, v. 29, n. 2, p. 85, doi. 10.1038/icb.1951.11

By:

Cleland, Joan B.

Publication type:

Article

CYSTINE, METHIONINE AND SULPHATE EXCRETION IN CYSTINURIA.

Published in:

Australian Journal of Experimental Biology & Medical Science, 1947, v. 25, n. 1, p. 33, doi. 10.1038/icb.1947.5

By:

Cleland, Joan B.

Publication type:

Article

CYSTINE, METHIONINE AND SULPHATE EXCRETION IN CYSTINURIA.

Published in:

Australian Journal of Experimental Biology & Medical Science, 1946, v. 24, n. 3, p. 219, doi. 10.1038/icb.1946.33

By:

Cleland, Joan B.

Publication type:

Article

CYSTINE, METHIONINE AND SULPHATE EXCRETION IN CYSTINURIA.

Published in:

Australian Journal of Experimental Biology & Medical Science, 1945, v. 23, n. 4, p. 273, doi. 10.1038/icb.1945.44

By:

Cleland, Joan B.

Publication type:

Article

Novel human pathological mutations.

Published in:: Human Genetics, 2007, v. 121, n. 2, p. 287, doi. 10.1007/s00439-006-0321-z
Publication type:: Article

Novel human pathological mutations.

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 774, doi. 10.1007/s00439-005-0109-6

By:

Lewis, Paul D.

Publication type:

Article

Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 295, doi. 10.1007/s004390000392

By:

Henthorn, Paula S.;
Junlong Liu;
Gidalevich, Tanya;
Jikang Fang;
Casal, Margret L.;
Patterson, Donald F.;
Giger, Urs

Publication type:

Article

Association between M467T and 114 C→A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 314, doi. 10.1007/s004390000251

By:

Guillén, Marisa;
Corella, Dolores;
Cabello, M. Luisa;
García, Ana M.;
Portolés, Olga;
Hernández-Yago, José

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

Recurrent symptomatic urolithiasis in a patient with cystic fibrosis.

Published in:

Pediatric Nephrology, 2024, v. 39, n. 12, p. 3467, doi. 10.1007/s00467-024-06433-2

By:

Yel, Sibel;
Dursun, Ismail;
Köse, Mehmet;
Kiraz, Aslıhan;
Poyrazoglu, Muammer Hakan;
Dündar, Munis

Publication type:

Article

Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.

Published in:

Pediatric Nephrology, 2023, v. 38, n. 5, p. 1513, doi. 10.1007/s00467-022-05732-w

By:

Piñero-Fernández, Juan Alberto;
Vicente-Calderón, Carmen;
Lorente-Sánchez, María José;
Juan-Fita, María Jesús;
Egea-Mellado, José María;
González-Gallego, Inmaculada C.

Publication type:

Article

Cystinuria: an update on pathophysiology, genetics, and clinical management.

Published in:

Pediatric Nephrology, 2022, v. 37, n. 8, p. 1705, doi. 10.1007/s00467-021-05342-y

By:

D'Ambrosio, Viola;
Capolongo, Giovanna;
Goldfarb, David;
Gambaro, Giovanni;
Ferraro, Pietro Manuel

Publication type:

Article

Nephrotic syndrome in a patient with cystinuria: Answers.

Published in:

2020

By:

Aksoy, Ozlem Yuksel;
Cakar, Nilgun

Publication type:

Case Study

Nephrotic syndrome in a patient with cystinuria: Questions.

Published in:

2020

By:

Aksoy, Ozlem Yuksel;
Cakar, Nilgun

Publication type:

Case Study

Educational review: role of the pediatric nephrologists in the work-up and management of kidney stones.

Published in:

Pediatric Nephrology, 2020, v. 35, n. 3, p. 383, doi. 10.1007/s00467-018-4179-9

By:

Rodriguez Cuellar, Carmen Inés;
Wang, Peter Zhan Tao;
Freundlich, Michael;
Filler, Guido

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

Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat.

Published in:

PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0159247

By:

Mizukami, Keijiro;
Raj, Karthik;
Osborne, Carl;
Giger, Urs

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