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Select item 45150171.

Excellent long-term outcome of renal transplantation in cystinosis patients

Camille Cohen, Marina Charbit, Bernadette Chadefaux-Vekemans, Magali Giral, Valérie Garrigue, Michèle Kessler, Corinne Antoine, Renaud Snanoudj, Patrick Niaudet, Henri Kreis, Christophe Legendre, Aude Servais

Orphanet J Rare Dis. 2015; 10: 90. Published online 2015 Jul 25. doi: 10.1186/s13023-015-0307-9

PMCID:: PMC4515017

Abstract Article PDF–958K

Select item 42827212.

That eagle covering me: transitioning and connected autonomy for emerging adults with cystinosis

Maya Doyle, Allison Werner-Lin

Pediatr Nephrol. 2015; 30(2): 281–291. Published online 2014 Aug 27. doi: 10.1007/s00467-014-2921-5

PMCID:: PMC4282721

Abstract Article PDF–467K

Select item 43286463.

Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

Gennaro Napolitano, Jennifer L Johnson, Jing He, Celine J Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stephanie Cherqui, Sergio D Catz

EMBO Mol Med. 2015 Feb; 7(2): 158–174. Published online 2015 Jan 13. doi: 10.15252/emmm.201404223

PMCID:: PMC4328646

Abstract Article PDF–2.9M

Select item 43396884.

Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults

Gema Ariceta, Enrique Lara, Juan A. Camacho, Federico Oppenheimer, Julia Vara, Fernando Santos, Miguel Angel Muñoz, Carmen Cantarell, Marta Gil Calvo, Rafael Romero, Blanca Valenciano, Víctor García-Nieto, Maria José Sanahuja, José Crespo, Maria Luisa Justa, Adela Urisarri, Rafael Bedoya, Alberto Bueno, Antonio Daza, Juan Bravo, Francisco Llamas, Luis Antonio Jiménez del Cerro

Nephrol Dial Transplant. 2015 Mar; 30(3): 475–480. Published online 2014 Oct 26. doi: 10.1093/ndt/gfu329

PMCID:: PMC4339688

Abstract Article PDF–145K

Select item 43414675.

Inhibition of Intracellular Clusterin Attenuates Cell Death in Nephropathic Cystinosis

Poonam Sansanwal, Li Li, Minnie M. Sarwal

J Am Soc Nephrol. 2015 Mar; 26(3): 612–625. Published online 2014 Jul 28. doi: 10.1681/ASN.2013060577

PMCID:: PMC4341467

Abstract Article

Select item 43818506.

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

ScientificWorldJournal. 2015; 2015: 309410. Published online 2015 Mar 17. doi: 10.1155/2015/309410

PMCID:: PMC4381850

Abstract Article PDF–896K

Select item 44131277.

Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria

Jayashree Kanthila, Smitha Dsa, Kamalakshi G. Bhat

J Clin Diagn Res. 2015 Mar; 9(3): SD05–SD06. Published online 2015 Mar 1. doi: 10.7860/JCDR/2015/10875.5692

PMCID:: PMC4413127

Abstract Article PDF–401K

Select item 44306218.

A Mouse Model Suggests Two Mechanisms for Thyroid Alterations in Infantile Cystinosis: Decreased Thyroglobulin Synthesis Due to Endoplasmic Reticulum Stress/Unfolded Protein Response and Impaired Lysosomal Processing

H. P. Gaide Chevronnay, V. Janssens, P. Van Der Smissen, X. H. Liao, Y. Abid, N. Nevo, C. Antignac, S. Refetoff, S. Cherqui, C. E. Pierreux, P. J. Courtoy

Endocrinology. 2015 Jun; 156(6): 2349–2364. Published online 2015 Mar 26. doi: 10.1210/en.2014-1672

PMCID:: PMC4430621

Abstract Article

Select item 44816319.

Hirschsprung's disease with infantile nephropathic cystinosis

Deepak Mittal, Arvind Bagga, Radhika Tandon, Mehar Chand Sharma, Veereshwar Bhatnagar

J Indian Assoc Pediatr Surg. 2015 Jul-Sep; 20(3): 153–154. doi: 10.4103/0971-9261.159033

PMCID:: PMC4481631

Abstract Article

Select item 426907110.

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis

Mohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, Hanan Abdelaziz, Safaa M Abdelrahman, Xavier Bossuyt, Mirian C Janssen, Elisabeth AM Cornelissen, Dirk J Lefeber, Leo AB Joosten, Marwa M Nabhan, Fanny O Arcolino, Fayza A Hassan, Héloïse P Gaide Chevronnay, Neveen A Soliman, Elena Levtchenko

Orphanet J Rare Dis. 2014; 9: 155. Published online 2014 Nov 19. doi: 10.1186/s13023-014-0155-z

PMCID:: PMC4269071

Abstract Article PDF–862K

Select item 452804311.

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene

Latifa Chkioua, Souhir Khedhiri, Oussama Grissa, Chaker Aloui, Hadhami Ben Turkia, Salima Ferchichi, Abdelhedi Miled, Roseline Froissart, Cecile Acquaviva, Sandrine Laradi

Meta Gene. 2015 Sep; 5: 144–149. Published online 2015 Jul 25. doi: 10.1016/j.mgene.2015.07.003

PMCID:: PMC4528043

Abstract Article PDF–822K

Select item 457391712.

Pancytopenia in a patient with cystinosis secondary to myelosuppression from cystine crystal deposition: a case report

Yung Lyou, Xiaohui Zhao, Chaitali S. Nangia

J Med Case Rep. 2015; 9: 205. Published online 2015 Sep 17. doi: 10.1186/s13256-015-0691-8

PMCID:: PMC4573917

Abstract Article PDF–534K

Select item 466106013.

Chiari I Malformation in Nephropathic Cystinosis

Kavya I Rao, John Hesselink, Doris A Trauner

J Pediatr. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: J Pediatr. 2015 Nov; 167(5): 1126–1129. Published online 2015 Aug 8. doi: 10.1016/j.jpeds.2015.07.038

PMCID:: PMC4661060

Abstract Article PDF–252K

Select item 472897814.

A case of corneal cystinosis in a patient with rickets and chronic renal failure

Jae Yon Won, Hyung Bin Hwang, Sung Kun Chung

Indian J Ophthalmol. 2015 Oct; 63(10): 785–787. doi: 10.4103/0301-4738.171509

PMCID:: PMC4728978

Abstract Article PDF–771K

Select item 484106115.

Cystinosis: a review

Mohamed A. Elmonem, Koenraad R. Veys, Neveen A. Soliman, Maria van Dyck, Lambertus P. van den Heuvel, Elena Levtchenko

Orphanet J Rare Dis. 2016; 11: 47. Published online 2016 Apr 22. doi: 10.1186/s13023-016-0426-y

PMCID:: PMC4841061

Abstract Article PDF–2.2M

Select item 486494216.

Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis

Wai W. Cheung, Stephanie Cherqui, Wei Ding, Mary Esparza, Ping Zhou, Jianhua Shao, Richard L. Lieber, Robert H. Mak

J Cachexia Sarcopenia Muscle. 2016 May; 7(2): 152–164. Published online 2015 Sep 7. doi: 10.1002/jcsm.12056

PMCID:: PMC4864942

Abstract Article PDF–4.3M

Select item 498821817.

Skeletal implications and management of cystinosis: three case reports and literature review

Justine Bacchetta, Marcella Greco, Aurélia Bertholet-Thomas, François Nobili, Jozef Zustin, Pierre Cochat, Francesco Emma, Georges Boivin

Bonekey Rep. 2016; 5: 828. Published online 2016 Aug 17. doi: 10.1038/bonekey.2016.55

PMCID:: PMC4988218

Abstract Article PDF–1.4M

Select item 502097118.

CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis

Miguel A. Alcántara-Ortigoza, Astrid B. Martínez-Bernal, Leticia Belmont-Martínez, Marcela Vela-Amieva, Ariadna González-del Angel

J Pediatr Genet. 2013 Sep; 2(3): 129–132. doi: 10.3233/PGE-13060

PMCID:: PMC5020971

Summary PDF–52K

Select item 422161119.

Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

M. Besouw, E. Cornelissen, D. Cassiman, L. Kluijtmans, L. van den Heuvel, E. Levtchenko

JIMD Rep. 2014; 16: 25–30. Published online 2014 May 6. doi: 10.1007/8904_2014_312

PMCID:: PMC4221611

Abstract Article PDF–216K

Select item 421333020.

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

Neveen A. Soliman, Mohamed A. Elmonem, Lambertus van den Heuvel, Rehab H. Abdel Hamid, Mohamed Gamal, Inge Bongaers, Sandrine Marie, Elena Levtchenko

JIMD Rep. 2014; 14: 87–97. Published online 2014 Jan 25. doi: 10.1007/8904_2013_288

PMCID:: PMC4213330

Abstract Article PDF–539K

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