Literature DB >> 7173255

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.

R B Schutgens, B Middleton, J F vd Blij, J W Oorthuys, H A Veder, T Vulsma, W H Tegelaers.   

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Year:  1982        PMID： 7173255     DOI： 10.1007/bf00442077

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  18 in total

1.  Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis.

Authors:  S Landaas
Journal:  Clin Chim Acta       Date:  1975-10-15       Impact factor: 3.786

2.  A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency.

Authors:  C J Groot; G L Haan; C E Hulstaert; F A Hoomes
Journal:  Pediatr Res       Date:  1977-10       Impact factor: 3.756

3.  Direct enzymic determination of acetate in tissue extracts in the presence of labile acetate esters.

Authors:  R W Guynn; R L Veech
Journal:  Anal Biochem       Date:  1974-09       Impact factor: 3.365

4.  The oxoacyl-coenzyme A thiolases of animal tissues.

Authors:  B Middleton
Journal:  Biochem J       Date:  1973-04       Impact factor: 3.857

5.  The acetoacetyl-coenzyme A thiolases of rat brain and their relative activities during postnatal development.

Authors:  B Middleton
Journal:  Biochem J       Date:  1973-04       Impact factor: 3.857

6.  Gas chromatography of urinary N-phenylacetylglutamine.

Authors:  J P Kamerling; M Brouwer; D Ketting; S K Wadman
Journal:  J Chromatogr       Date:  1979-10-11

7.  Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism.

Authors:  B H Robinson; W G Sherwood; J Taylor; J W Balfe; O A Mamer
Journal:  J Pediatr       Date:  1979-08       Impact factor: 4.406

8.  A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria.

Authors:  S Halvorsen; O Stokke; E Jellum
Journal:  Acta Paediatr Scand       Date:  1979-01

9.  The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.

Authors:  B Middleton; K Bartlett
Journal:  Clin Chim Acta       Date:  1983-03-14       Impact factor: 3.786

10.  The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.

Authors:  M Duran; L Bruinvis; D Ketting; J P Kamerling; S K Wadman; R B Schutgens
Journal:  Biomed Mass Spectrom       Date:  1982-01
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  14 in total

1.  Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.

Authors:  T Kuwahara; T Fukao; M Kano; S Yamaguchi; T Orii; T Hashimoto
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.

Authors:  H Nagasawa; S Yamaguchi; T Orii; R B Schutgens; L Sweetman; T Hashimoto
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities.

Authors:  R G Gray; G W Lowther; J M Littlewood; B Middleton; M J Bennett
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

4.  A case of beta-ketothiolase deficiency.

Authors:  M J Bennett; J M Littlewood; A MacDonald; R J Pollitt; J Thompson
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

Review 5.  Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.

Authors:  O Søvik
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 6.  The biochemical basis of mitochondrial diseases.

Authors:  H R Scholte
Journal:  J Bioenerg Biomembr       Date:  1988-04       Impact factor: 2.945

7.  Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

Authors:  T Fukao; S Yamaguchi; T Orii; R B Schutgens; T Osumi; T Hashimoto
Journal:  J Clin Invest       Date:  1992-02       Impact factor: 14.808

8.  Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation.

Authors:  M J Bennett; G P Hosking; M F Smith; R G Gray; B Middleton
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

9.  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

10.  3-Ketothiolase deficiency.

Authors:  B Middleton; K Bartlett; A Romanos; J Gomez Vazquez; C Conde; R A Cannon; M Lipson; L Sweetman; W L Nyhan
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183
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