Literature DB >> 9700610

Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy.

A C Sewell1, J Herwig, I Wiegratz, W Lehnert, H Niederhoff, X Q Song, N Kondo, T Fukao.   

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Year:  1998        PMID： 9700610     DOI： 10.1023/a:1005335515166

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


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  4 in total

1.  Pregnancy issues in inherited metabolic disorders.

Authors:  Philip J Lee
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

Review 2.  Ketone body metabolism and its defects.

Authors:  Toshiyuki Fukao; Grant Mitchell; Jörn Oliver Sass; Tomohiro Hori; Kenji Orii; Yuka Aoyama
Journal:  J Inherit Metab Dis       Date:  2014-04-08       Impact factor: 4.982

Review 3.  Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Authors:  Elsayed Abdelkreem; Rajesh K Harijan; Seiji Yamaguchi; Rikkert K Wierenga; Toshiyuki Fukao
Journal:  Hum Mutat       Date:  2019-07-03       Impact factor: 4.878

4.  2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.

Authors:  Sarah C Grünert; Jörn Oliver Sass
Journal:  Orphanet J Rare Dis       Date:  2020-04-28       Impact factor: 4.123
  4 in total

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