Literature DB >> 11085630

Severe recurrent renal salt wasting in a boy with a mitochondrial oxidative phosphorylation defect.

H J Southgate1, M D Penney.   

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Year:  2000        PMID： 11085630     DOI： 10.1258/0004563001900002

Source DB:  PubMed          Journal:  Ann Clin Biochem        ISSN： 0004-5632            Impact factor:   2.057


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  4 in total

1.  Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.

Authors:  Marcus Brecht; Malcolm Richardson; Ajay Taranath; Scott Grist; David Thorburn; Drago Bratkovic
Journal:  JIMD Rep       Date:  2015-02-15

2.  Severe hyponatremia occurring after surgical stress in a patient with mitochondrial disease.

Authors:  Nobuko Sasano; Tetsuya Tamura; Takafumi Azami; Hiroshi Sasano
Journal:  J Anesth       Date:  2009-11-18       Impact factor: 2.078

3.  Commentary: New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Authors:  Josef Finsterer
Journal:  Front Immunol       Date:  2019-06-21       Impact factor: 7.561

4.  Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.

Authors:  Josef Finsterer; Michael Winklehner; Claudia Stöllberger; Thomas Hummel
Journal:  Case Rep Neurol Med       Date:  2020-02-27
  4 in total

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