Kearns–Sayre Syndrome Presenting as 2-Oxoadipic Aciduria-Reference-Cited by-同舟云学术

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Kearns–Sayre Syndrome Presenting as 2-Oxoadipic Aciduria

Published:2000-01 Issue:1 Volume:69 Page:64-68
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Barshop Bruce A.,Nyhan William L.,Naviaux Robert K.,McGowan Karen A.,Friedlander Martin,Haas Richard H.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference18 articles.

1. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome;Moraes;N Engl J Med,1989

2. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block;Kearns;Arch Ophthalmol,1958

3. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies;Holt;Nature,1988

4. Widespread tissue distribution of mitochondrial DNA deletions in Kearns–Sayre syndrome;Shanske;Neurology,1990

5. Tryptophan and lysine metabolism in alpha-aminoadipic aciduria;Fischer;Am J Med Genet,1980

Cited by 13 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. Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children;Hepatology Communications;2023-05-15

2. Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report;World Journal of Clinical Cases;2022-09-16

3. The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies;Molecular Genetics and Metabolism;2020-09

4. The necessity of implantable cardioverter defibrillators in patients with Kearns-Sayre syndrome - systematic review of the articles -;International Journal of Cardiology;2019-03

5. The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders;Clinica Chimica Acta;2018-06

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