A familial case of mitochondrial disease resembling Alport syndrome-Reference-Cited by-同舟云学术

A familial case of mitochondrial disease resembling Alport syndrome

Published:2008-04 Issue:2 Volume:12 Page:159-163
ISSN:1342-1751
Container-title:Clinical and Experimental Nephrology
language:en
Short-container-title:Clin Exp Nephrol

Author:

Fujii Hayahiko,Mori Yoshihiro,Kayamori Kou,Igari Toru,Ito Eisaku,Akashi Takumi,Noguchi Yoshihiro,Kitamura Ken,Okado Tomokazu,Terada Yoshio,Kanda Eiichiro,Rai Tatemitsu,Uchida Shinichi,Sasaki Sei

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Nephrology,Physiology

Link

http://link.springer.com/content/pdf/10.1007/s10157-007-0022-5.pdf

Reference5 articles.

1. Scaglia F, Northrop JL. The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options. CNS Drugs 2006;20:443–64.

2. Alcolado JC, Laji K, Gill-Randall R. Maternal transmission of diabetes. Diabetic Med 2002;19:89–98.

3. Maassen JA. Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis. Am J Med Genet 2002;115:66–70.

4. Jansen JJ, Maassen JA, van der Woude FJ, Lemmink HA, van den Ouweland JM, t’Hart LM, et al. Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease. J Am Soc Nephrol. 1997;8:1118–24.

5. Hotta O, Inoue CN, Miyabayashi S, Furuta T, Takeuchi A, Taguma Y. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation. Kidney Int. 2001;59:1236–43.

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial ATP6 Gene and Its Functional Consequences on Yeast ATP Synthase;Life;2020-09-22

2. A case of mitochondrial disease with an A3243G mutation diagnosis based on progressive proteinuria;Japanese journal of pediatric nephrology;2019

3. Kidney involvement in MELAS syndrome: Description of 2 cases;Medicina Clínica (English Edition);2017-04

4. Afección renal en el síndrome de MELAS: descripción de 2 casos;Medicina Clínica;2017-04

5. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease;Kidney International;2015-03