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Cystinuria, type 3

MedGen UID:
541383
Concept ID:
C0268645
Disease or Syndrome
SNOMED CT: Cystinuria, type 3 (42496002)

Professional guidelines

PubMed

Johri N, Cooper B, Robertson W, Choong S, Rickards D, Unwin R
Nephron Clin Pract 2010;116(3):c159-71. Epub 2010 Jul 2 doi: 10.1159/000317196. PMID: 20606476

Recent clinical studies

Etiology

Tokhmafshan F, Goodyer PR
Curr Opin Nephrol Hypertens 2023 May 1;32(3):297-304. Epub 2023 Mar 20 doi: 10.1097/MNH.0000000000000880. PMID: 37013453
Wong KA, Mein R, Wass M, Flinter F, Pardy C, Bultitude M, Thomas K
BJU Int 2015 Jul;116(1):109-16. Epub 2015 Mar 12 doi: 10.1111/bju.12894. PMID: 25109415
Johri N, Cooper B, Robertson W, Choong S, Rickards D, Unwin R
Nephron Clin Pract 2010;116(3):c159-71. Epub 2010 Jul 2 doi: 10.1159/000317196. PMID: 20606476
Evan AP
Pediatr Nephrol 2010 May;25(5):831-41. Epub 2009 Feb 7 doi: 10.1007/s00467-009-1116-y. PMID: 19198886Free PMC Article
Endres W
J Inherit Metab Dis 1997 Mar;20(1):9-20. doi: 10.1023/a:1005397120726. PMID: 9061562

Diagnosis

Tokhmafshan F, Goodyer PR
Curr Opin Nephrol Hypertens 2023 May 1;32(3):297-304. Epub 2023 Mar 20 doi: 10.1097/MNH.0000000000000880. PMID: 37013453
Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML
Clin Genet 2012 Jan;81(1):47-55. Epub 2011 Feb 14 doi: 10.1111/j.1399-0004.2011.01638.x. PMID: 21255007
Johri N, Cooper B, Robertson W, Choong S, Rickards D, Unwin R
Nephron Clin Pract 2010;116(3):c159-71. Epub 2010 Jul 2 doi: 10.1159/000317196. PMID: 20606476
Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A
Pediatr Nephrol 2010 Mar;25(3):415-24. Epub 2009 Jan 21 doi: 10.1007/s00467-008-1085-6. PMID: 19156444Free PMC Article
Calonge MJ, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X
Proc Natl Acad Sci U S A 1995 Oct 10;92(21):9667-71. doi: 10.1073/pnas.92.21.9667. PMID: 7568194Free PMC Article

Therapy

Guillén M, Corella D, Cabello ML, García AM, Hernández-Yago J
Clin Biochem 1999 Feb;32(1):25-30. doi: 10.1016/s0009-9120(98)00087-3. PMID: 10074888
Berio A, Piazzi A
Panminerva Med 1998 Sep;40(3):244-6. PMID: 9785925
Jaeger P, Portmann L, Ginalski JM, Jacquet AF, Temler E, Burckhardt P
Kidney Int 1986 Feb;29(2):563-71. doi: 10.1038/ki.1986.35. PMID: 2871216

Prognosis

Tkaczyk M, Gadomska-Prokop K, Załuska-Leśniewska I, Musiał K, Zawadzki J, Jobs K, Porowski T, Rogowska-Kalisz A, Jander A, Kirolos M, Haliński A, Krzemień A, Sobieszczańska-Droździel A, Zachwieja K, Beck BB, Sikora P, Zaniew M
Ren Fail 2021 Dec;43(1):62-70. doi: 10.1080/0886022X.2020.1860089. PMID: 33349102Free PMC Article
Zu'bi F, Sidler M, Harvey E, Lopes RI, Hojjat A, Naoum N, Pokarowski M, Lorenzo AJ, Farhat WA, Papanikolaou F, Dos Santos J
J Pediatr Urol 2017 Aug;13(4):357.e1-357.e7. Epub 2017 Aug 4 doi: 10.1016/j.jpurol.2017.06.022. PMID: 28865885
Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A
Pediatr Nephrol 2010 Mar;25(3):415-24. Epub 2009 Jan 21 doi: 10.1007/s00467-008-1085-6. PMID: 19156444Free PMC Article
Chillarón J, Estévez R, Samarzija I, Waldegger S, Testar X, Lang F, Zorzano A, Busch A, Palacín M
J Biol Chem 1997 Apr 4;272(14):9543-9. doi: 10.1074/jbc.272.14.9543. PMID: 9083097
Scriver CR, Clow CL, Reade TM, Goodyer P, Auray-Blais C, Giguère R, Lemieux B
J Pediatr 1985 Mar;106(3):411-6. doi: 10.1016/s0022-3476(85)80666-1. PMID: 3919167

Clinical prediction guides

Boussetta A, Karray A, Abida N, Jellouli M, Gargah T
Tunis Med 2022 mai;100(5):410-415. PMID: 36206091Free PMC Article
Martens K, Jaeken J, Matthijs G, Creemers JW
Curr Mol Med 2008 Sep;8(6):544-50. doi: 10.2174/156652408785747997. PMID: 18781961
Wendt-Nordahl G, Sagi S, Bolenz C, Alken P, Michel MS, Knoll T
Urol Res 2008 Feb;36(1):25-9. Epub 2007 Dec 7 doi: 10.1007/s00240-007-0127-z. PMID: 18074125
Stoller ML, Bruce JE, Bruce CA, Foroud T, Kirkwood SC, Stambrook PJ
Am J Med Genet 1999 Sep 10;86(2):134-9. PMID: 10449648
Bisceglia L, Calonge MJ, Totaro A, Feliubadaló L, Melchionda S, García J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacín M
Am J Hum Genet 1997 Mar;60(3):611-6. PMID: 9042921Free PMC Article

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