Literature DB >> 8750614

Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency.

E Riudor1, A Ribes, C Perez-Cerda, J A Arranz, J Mora, D Yeste, F Castello, B Christensen, O Sovik.   

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Year:  1995        PMID： 8750614     DOI： 10.1007/bf02436766

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


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  2 in total

1.  A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.

Authors:  K M Gibson; C F Lee; V Kamali; O Søvik
Journal:  Clin Chim Acta       Date:  1992-01-31       Impact factor: 3.786

2.  6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.

Authors:  C H Cromby; N J Manning; R J Pollitt; S Powell; M J Bennett
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  2 in total
  3 in total

1.  Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.

Authors:  A B Burlina; K M Gibson; W Ruitenbeek; L Bonafè; M J Bennett
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

Review 2.  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

3.  Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency.

Authors:  Vijayakumary Thadchanamoorthy; Kavinda Dayasiri
Journal:  Cureus       Date:  2022-02-05
  3 in total

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