Literature DB >> 5035417

Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.

O Stokke, L Eldjarn, E Jellum, H Pande, P E Waaler.   

Abstract

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Year:  1972        PMID： 5035417

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  9 in total

1.  Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.

Authors:  K Tanaka; R Mandell; V E Shih
Journal:  J Clin Invest       Date:  1976-07       Impact factor: 14.808

Review 2.  Food intolerance in humans.

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

3.  Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria.

Authors:  D Gompertz; K Bartlett; D Blair; C M Stern
Journal:  Arch Dis Child       Date:  1973-12       Impact factor: 3.791

Review 4.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

5.  Determination of β-hydroxy-β-methylbutyrate concentration and enrichment in human plasma using chemical ionization gas chromatography tandem mass spectrometry.

Authors:  Dillon K Walker; John J Thaden; Agata Wierzchowska-McNew; Marielle P K J Engelen; Nicolaas E P Deutz
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2016-11-09       Impact factor: 3.205

Review 6.  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

7.  Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.

Authors:  C Jakobs; L Sweetman; W L Nyhan; S Packman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.

Authors:  Y Shigematsu; I L Bykov; Y Y Liu; A Nakai; Y Kikawa; M Sudo; M Fujioka
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

9.  A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria.

Authors:  W Lehnert; H Niederhoff; A Junker; H Saule; W Frasch
Journal:  Eur J Pediatr       Date:  1979-10       Impact factor: 3.183
  9 in total

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