Literature DB >> 9427153

Absence of common trifunctional protein mutation in patients with Alpers disease.

Z Yang1, R Youil, D Thorburn, C W Chow, R G Cotton, G S Baldwin.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1997        PMID： 9427153     DOI： 10.1023/a:1005332120740

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


× No keyword cloud information.
  5 in total

1.  A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.

Authors:  N J Manning; S E Olpin; R J Pollitt; J Webley
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII.

Authors:  R Youil; B W Kemper; R G Cotton
Journal:  Proc Natl Acad Sci U S A       Date:  1995-01-03       Impact factor: 11.205

3.  Infantile diffuse cerebral degeneration with hepatic cirrhosis.

Authors:  P R Huttenlocher; G B Solitare; G Adams
Journal:  Arch Neurol       Date:  1976-03

Review 4.  Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults.

Authors:  B N Harding; N Alsanjari; S J Smith; C M Wiles; D Thrush; D H Miller; F Scaravilli; A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-03       Impact factor: 10.154

5.  Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.

Authors:  L IJlst; R J Wanders; S Ushikubo; T Kamijo; T Hashimoto
Journal:  Biochim Biophys Acta       Date:  1994-12-08
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.