Literature DB >> 9870212

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

A B Burlina1, K M Gibson, W Ruitenbeek, L Bonafè, M J Bennett.   

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Year:  1998        PMID: 9870212     DOI: 10.1023/a:1005426920116

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


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  3 in total

1.  Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (beta-keto)thiolase deficiency.

Authors:  K M Gibson; A S Feigenbaum
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

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

Authors:  E Riudor; A Ribes; C Perez-Cerda; J A Arranz; J Mora; D Yeste; F Castello; B Christensen; O Sovik
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect.

Authors:  M J Bennett; W G Sherwood; K M Gibson; A B Burlina
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

  3 in total
  3 in total

Review 1.  Amyloid-beta-induced mitochondrial dysfunction.

Authors:  John Xi Chen; Shi Du Yan
Journal:  J Alzheimers Dis       Date:  2007-09       Impact factor: 4.472

2.  Evidence that 2-methylacetoacetate induces oxidative stress in rat brain.

Authors:  Guilhian Leipnitz; Bianca Seminotti; Alexandre U Amaral; Carolina G Fernandes; Carlos S Dutra-Filho; Moacir Wajner
Journal:  Metab Brain Dis       Date:  2010-09-14       Impact factor: 3.584

3.  2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

Authors:  S E Olpin; R J Pollitt; J McMenamin; N J Manning; G Besley; J P N Ruiter; R J A Wanders
Journal:  J Inherit Metab Dis       Date:  2002-10       Impact factor: 4.982

  3 in total

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