Literature DB >> 4690360

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.

R S Daum, C R Scriver, O A Mamer, E Delvin, P Lamm, H Goldman.   

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Year:  1973        PMID： 4690360     DOI： 10.1203/00006450-197303000-00007

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


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  22 in total

1.  Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts.

Authors:  O Søvik; J M Saudubray; A Munnich; L Sweetman
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  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

3.  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

4.  Profound neurological illness, relieved by protein restriction, in a baby with a transient disturbance in the metabolism of ingested isoleucine.

Authors:  G K Brown; S M Hunt; D K Mitchell; D M Danks
Journal:  Eur J Pediatr       Date:  1987-07       Impact factor: 3.183

Review 5.  Food intolerance in humans.

Authors:  R H Herman; L Hagler
Journal:  West J Med       Date:  1979-02

6.  beta-Ketothiolase deficiency with favourable evolution.

Authors:  G Sabetta; C Bachmann; O Giardini; M Castro; M Gambarara; C D Vici; K Bartlett; B Middleton
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

Review 7.  An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors:  S I Goodman
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

8.  Symptoms and signs in organic acidurias.

Authors:  N J Brandt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

Review 9.  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

10.  Glial metabolism of isoleucine.

Authors:  Radovan Murín; Ghasem Mohammadi; Dieter Leibfritz; Bernd Hamprecht
Journal:  Neurochem Res       Date:  2008-09-12       Impact factor: 3.996
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