Literature DB >> 11486914

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.

G Tóth1, E Morava, J Bene, J J Selhorst, H Overmars, P Vreken, J Molnár, V Farkas, B Melegh.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11486914     DOI： 10.1023/a:1010537527291

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  3 in total

1.  Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.

Authors:  P Vreken; A E van Lint; A H Bootsma; H Overmars; R J Wanders; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome.

Authors:  T Fujii; H Hattori; Y Higuchi; M Tsuji; I Mitsuyoshi
Journal:  Pediatr Neurol       Date:  1998-03       Impact factor: 3.372

3.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962
  3 in total
  2 in total

1.  A rare mitochondrial disorder: Leigh syndrome--a case report.

Authors:  Dhananjay Y Shrikhande; Piyush Kalakoti; M M Aarif Syed; Kunal Ahya; Gurmeet Singh
Journal:  Ital J Pediatr       Date:  2010-09-15       Impact factor: 2.638

2.  Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.

Authors:  May Yung Tiet; Zhiyuan Lin; Fei Gao; Matthew James Jennings; Rita Horvath
Journal:  J Neuromuscul Dis       Date:  2021
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.