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Items: 14

Select item 58742171.

First Successful Conception Induced by a Male Cystinosis Patient

Koenraad R. Veys, Kathleen W. D’Hauwers, Angelique J. C. M. van Dongen, Mirian C. Janssen, Martine T. P. Besouw, Ellen Goossens, Lambert P. van den Heuvel, Alex A. M. M. Wetzels, Elena N. Levtchenko

JIMD Rep. 2018; 38: 1–6. Published online 2017 Apr 13. doi: 10.1007/8904_2017_19

PMCID:: PMC5874217

Article PDF–173K

Select item 43749582.

Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin

Ekaterina A. Ivanova, Maria Giovanna De Leo, Lambertus Van Den Heuvel, Anna Pastore, Henry Dijkman, Maria Antonietta De Matteis, Elena N. Levtchenko

PLoS One. 2015; 10(3): e0120998. Published online 2015 Mar 26. doi: 10.1371/journal.pone.0120998

PMCID:: PMC4374958

Article PDF–2.8M

Select item 41583383.

Nephropathic cystinosis: an international consensus document

Francesco Emma, Galina Nesterova, Craig Langman, Antoine Labbé, Stephanie Cherqui, Paul Goodyer, Mirian C. Janssen, Marcella Greco, Rezan Topaloglu, Ewa Elenberg, Ranjan Dohil, Doris Trauner, Corinne Antignac, Pierre Cochat, Frederick Kaskel, Aude Servais, Elke Wühl, Patrick Niaudet, William Van't Hoff, William Gahl, Elena Levtchenko

Nephrol Dial Transplant. 2014 Sep; 29(Suppl 4): iv87–iv94. doi: 10.1093/ndt/gfu090

PMCID:: PMC4158338

Article PDF–283K

Select item 33866754.

A Randomized Controlled Crossover Trial with Delayed-Release Cysteamine Bitartrate in Nephropathic Cystinosis: Effectiveness on White Blood Cell Cystine Levels and Comparison of Safety

Craig B. Langman, Larry A. Greenbaum, Minnie Sarwal, Paul Grimm, Patrick Niaudet, Georges Deschênes, Elisabeth Cornelissen, Denis Morin, Pierre Cochat, Debora Matossian, Segolene Gaillard, Mary Jo Bagger, Patrice Rioux

Clin J Am Soc Nephrol. 2012 Jul; 7(7): 1112–1120. doi: 10.2215/CJN.12321211

PMCID:: PMC3386675

Article

Select item 29926545.

Neurocognitive functioning in school-aged cystinosis patients

M. T. P. Besouw, G. M. Hulstijn-Dirkmaat, R. E. A. van der Rijken, E. A. M. Cornelissen, C. M. van Dael, J. Vande Walle, M. R. Lilien, E. N. Levtchenko

J Inherit Metab Dis. 2010; 33(6): 787–793. Published online 2010 Sep 3. doi: 10.1007/s10545-010-9182-7

PMCID:: PMC2992654

Article PDF–142K

Select item 28888396.

Craniofacial and Dental Findings in Cystinosis

CW Bassim, P Gautam, DL Domingo, JZ Balog, JP Guadagnini, WA Gahl, TC Hart

Oral Dis. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Oral Dis. 2010 Jul; 16(5): 488–495. Published online 2010 Mar 9. doi: 10.1111/j.1601-0825.2010.01662.x

PMCID:: PMC2888839

Article PDF–1.0M

Select item 27929817.

Gastric acid hypersecretory states: recent insights and advances

Nauramy Osefo, Tetsuhide Ito, Robert T. Jensen

Curr Gastroenterol Rep. Author manuscript; available in PMC 2010 Dec 1.

Published in final edited form as: Curr Gastroenterol Rep. 2009 Dec; 11(6): 433–441. doi: 10.1007/s11894-009-0067-6

PMCID:: PMC2792981

Article PDF–70K

Select item 23909828.

Late-Onset Nephropathic Cystinosis: Clinical Presentation, Outcome, and Genotyping

Aude Servais, Vincent Morinière, Jean-Pierre Grünfeld, Laure-Hélène Noël, Jean-Michel Goujon, Bernadette Chadefaux-Vekemans, Corinne Antignac

Clin J Am Soc Nephrol. 2008 Jan; 3(1): 27–35. doi: 10.2215/CJN.01740407

PMCID:: PMC2390982

Article

Select item 18843939.

Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients

Eric B Belldina, Mei Y Huang, Jerry A Schneider, Richard C Brundage, Timothy S Tracy

Br J Clin Pharmacol. 2003 Nov; 56(5): 520–525. doi: 10.1046/j.1365-2125.2003.01927.x

PMCID:: PMC1884393

Article PDF–100K

Select item 185096610.

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Ekaterini Tsilou, Min Zhou, William Gahl, Pamela C. Sieving, Chi-Chao Chan

Surv Ophthalmol. Author manuscript; available in PMC 2007 Apr 10.

Published in final edited form as: Surv Ophthalmol. 2007; 52(1): 97–105. doi: 10.1016/j.survophthal.2006.10.006

PMCID:: PMC1850966

Article PDF–3.4M

Select item 137754511.

CTNS mutations in an American-based population of cystinosis patients.

V Shotelersuk, D Larson, Y Anikster, G McDowell, R Lemons, I Bernardini, J Guo, J Thoene, W A Gahl

Am J Hum Genet. 1998 Nov; 63(5): 1352–1362. doi: 10.1086/302118

PMCID:: PMC1377545

Summary PDF–904K

Select item 122605812.

The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region

Chanika Phornphutkul, Yair Anikster, Marjan Huizing, Paula Braun, Chaya Brodie, Janice Y. Chou, William A. Gahl

Am J Hum Genet. 2001 Oct; 69(4): 712–721. Published online 2001 Aug 14. doi: 10.1086/323484

PMCID:: PMC1226058

Article PDF–401K

Select item 31083613.

The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion

Jeffrey W. Touchman, Yair Anikster, Nicole L. Dietrich, Valerie V. Braden Maduro, Geraldine McDowell, Vorasuk Shotelersuk, Gerard G. Bouffard, Stephen M. Beckstrom-Sternberg, William A. Gahl, Eric D. Green

Genome Res. 2000 Feb; 10(2): 165–173. doi: 10.1101/gr.10.2.165

PMCID:: PMC310836

Article PDF–489K

Select item 13568214.

Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis

Stéphanie Cherqui, Caroline Sevin, Ghislaine Hamard, Vasiliki Kalatzis, Mireille Sich, Marie O. Pequignot, Karïn Gogat, Marc Abitbol, Michel Broyer, Marie-Claire Gubler, Corinne Antignac

Mol Cell Biol. 2002 Nov; 22(21): 7622–7632. doi: 10.1128/MCB.22.21.7622-7632.2002