Literature DB >> 4194964

Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism.

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

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Year:  1970        PMID： 4194964     DOI： 10.1016/s0140-6736(70)90140-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  14 in total

Review 1.  Review of recent developments in GC-MS approaches to metabolomics-based research.

Authors:  David J Beale; Farhana R Pinu; Konstantinos A Kouremenos; Mahesha M Poojary; Vinod K Narayana; Berin A Boughton; Komal Kanojia; Saravanan Dayalan; Oliver A H Jones; Daniel A Dias
Journal:  Metabolomics       Date:  2018-11-17       Impact factor: 4.290

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

4.  Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation.

Authors:  K Bartlett; H Ng; G Dale; A Green; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

Review 5.  Enzyme studies in biotin-responsive disorders.

Authors:  K Bartlett; H K Ghneim; H J Stirk; H Wastell
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

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.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

Authors:  F A Beemer; K Bartlett; M Duran; H K Ghneim; S K Wadman; L Bruinvis; D Ketting
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183

8.  Organic aciduria. Treatable cause of floppy infant syndrome.

Authors:  B R Keeton
Journal:  Arch Dis Child       Date:  1976-08       Impact factor: 3.791

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

10.  Organic aciduria in neonatal multiple carboxylase deficiency.

Authors:  L Sweetman; W L Nyhan; N A Sakati; A Ohlsson; M S Mange; R B Boychuk; R Kaye
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982
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