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

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作者信息

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

机构信息

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.

出版信息

Indian J Nephrol. 2018 Jan-Feb;28(1):84-85. doi: 10.4103/ijn.IJN_20_17.

DOI:10.4103/ijn.IJN_20_17

PMID:29515311

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5830819/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa25/5830819/dde9271ec83a/IJN-28-84-g001.jpg

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本文引用的文献

Cystinuria: the South Indian experience.

Urol Res. 2009 Dec;37(6):341-3. doi: 10.1007/s00240-009-0217-1. Epub 2009 Sep 25.

Etiology of nephrocalcinosis in northern Indian children.

Pediatr Nephrol. 2007 Jun;22(6):829-33. doi: 10.1007/s00467-006-0425-7. Epub 2007 Feb 7.

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

J Med Genet. 2005 Jan;42(1):58-68. doi: 10.1136/jmg.2004.022244.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

J Am Soc Nephrol. 2002 Oct;13(10):2547-53. doi: 10.1097/01.asn.0000029586.17680.e5.

Evaluation of the nitroprusside test for the diagnosis of cystinuria.

Med J Aust. 1977 Jul 30;2(5):153-5. doi: 10.5694/j.1326-5377.1977.tb99112.x.

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