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Items: 1 to 20 of 39

1.

Case Report: Cystinuria and Polycystic Kidney Disease.

Sidhu A, Mittal A, Negroni-Balasquide X, Constantinescu A, Kozakowski K.

Pediatrics. 2016 Dec;138(6). pii: e20160674. Epub 2016 Nov 15. Review.

PMID:
27940671
2.
3.

Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine.

Vajdi T, Lee WW, Paravar T.

Dermatol Online J. 2016 May 15;22(5). pii: 13030/qt47p4d8zv. Review.

PMID:
27617526
4.

Re: Imaging and Surgical Utilization for Pediatric Cystinuria Patients: A Single-Institution Cohort Study.

Assimos DG.

J Urol. 2016 May;195(5):1576-7. doi: 10.1016/j.juro.2016.02.031. Epub 2016 Feb 12. No abstract available.

PMID:
27186779
5.

Metabolic features and renal outcomes of urolithiasis in children.

Lee ST, Cho H.

Ren Fail. 2016 Jul;38(6):927-32. doi: 10.3109/0886022X.2016.1172939. Epub 2016 Apr 20.

PMID:
27098938
6.

Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.

Nagamori S, Wiriyasermkul P, Guarch ME, Okuyama H, Nakagomi S, Tadagaki K, Nishinaka Y, Bodoy S, Takafuji K, Okuda S, Kurokawa J, Ohgaki R, Nunes V, Palacín M, Kanai Y.

Proc Natl Acad Sci U S A. 2016 Jan 19;113(3):775-80. doi: 10.1073/pnas.1519959113. Epub 2016 Jan 6.

7.

Commentary to "Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study".

Tasian GE.

J Pediatr Urol. 2016 Apr;12(2):107. doi: 10.1016/j.jpurol.2015.09.016. Epub 2015 Nov 17. No abstract available.

PMID:
26683112
8.

Imaging and surgical utilization for pediatric cystinuria patients: A single-institution cohort study.

Varda BK, Johnson EK, Johnson KL, Rosoklija I, Baum MA, Nelson CP.

J Pediatr Urol. 2016 Apr;12(2):106.e1-7. doi: 10.1016/j.jpurol.2015.08.019. Epub 2015 Oct 22.

PMID:
26597229
9.

The Role of Protein Modelling in Predicting the Disease Severity of Cystinuria.

Wong KA, Wass M, Thomas K.

Eur Urol. 2016 Mar;69(3):543-4. doi: 10.1016/j.eururo.2015.10.039. Epub 2015 Nov 14. No abstract available.

PMID:
26589650
10.

Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.

Athanasiou Y, Voskarides K, Chatzikyriakidou A, Ignatiou A, Demosthenous P, Elia A, Zavros M, Georgiou I, Pierides A, Deltas C.

Genet Test Mol Biomarkers. 2015 Nov;19(11):641-5. doi: 10.1089/gtmb.2015.0144. Epub 2015 Nov 5.

PMID:
26540609
11.

The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter.

Rius M, Sala L, Chillarón J.

Biochem J. 2016 Feb 1;473(3):233-44. doi: 10.1042/BJ20150846. Epub 2015 Nov 4.

PMID:
26537754
12.

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

Parr JM, Desai D, Winkle D.

BJU Int. 2015 Oct;116 Suppl 3:31-5. doi: 10.1111/bju.13169. Epub 2015 Jul 21.

13.

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

Koulivand L, Mohammadi M, Ezatpour B, Salehi R, Markazi S, Dashti S, Kheirollahi M.

Urolithiasis. 2015 Oct;43(5):447-53. doi: 10.1007/s00240-015-0794-0. Epub 2015 Jun 30.

PMID:
26123750
14.

Cystine growth inhibition through molecular mimicry: a new paradigm for the prevention of crystal diseases.

Lee MH, Sahota A, Ward MD, Goldfarb DS.

Curr Rheumatol Rep. 2015 May;17(5):33. doi: 10.1007/s11926-015-0510-7. Review.

15.

Metabolic disorders in Turkish children with urolithiasis.

Celiksoy MH, Yilmaz A, Aydogan G, Kiyak A, Topal E, Sander S.

Urology. 2015 Apr;85(4):909-13. doi: 10.1016/j.urology.2014.12.032.

PMID:
25817115
16.

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

Al-Marhoon MS, Bayoumi R, Al-Farsi Y, Al-Hinai A, Al-Maskary S, Venkiteswaran K, Al-Busaidi Q, Mathew J, Rhman K, Sharif O, Aquil S, Al-Hashmi I.

Urolithiasis. 2015 Jun;43(3):207-11. doi: 10.1007/s00240-015-0763-7. Epub 2015 Mar 25.

PMID:
25805105
17.

CKD and Its Risk Factors among Patients with Cystinuria.

Prot-Bertoye C, Lebbah S, Daudon M, Tostivint I, Bataille P, Bridoux F, Brignon P, Choquenet C, Cochat P, Combe C, Conort P, Decramer S, Doré B, Dussol B, Essig M, Gaunez N, Joly D, Le Toquin-Bernard S, Méjean A, Meria P, Morin D, N'Guyen HV, Noël C, Normand M, Pietak M, Ronco P, Saussine C, Tsimaratos M, Friedlander G, Traxer O, Knebelmann B, Courbebaisse M; French Cystinuria Group.

Clin J Am Soc Nephrol. 2015 May 7;10(5):842-51. doi: 10.2215/CJN.06680714. Epub 2015 Feb 25.

18.

Cystinuria: current concepts and future directions.

Pereira DJ, Schoolwerth AC, Pais VM.

Clin Nephrol. 2015 Mar;83(3):138-46. Review.

PMID:
25685869
19.

A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients.

Bourderioux M, Nguyen-Khoa T, Chhuon C, Jeanson L, Tondelier D, Walczak M, Ollero M, Bekri S, Knebelmann B, Escudier E, Escudier B, Edelman A, Guerrera IC.

J Proteome Res. 2015 Jan 2;14(1):567-77. doi: 10.1021/pr501003q. Epub 2014 Nov 12.

PMID:
25365230
20.

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.

Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, Yoshinaga H, Okamoto N, Takama Y, Kubota A, Nakayama M, Yatsuki H, Nishioka K, Joh K, Mukai T, Yoshiura KI, Soejima H.

Clin Genet. 2015 Sep;88(3):261-6. doi: 10.1111/cge.12496. Epub 2014 Nov 8.

PMID:
25171146

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