Literature DB >> 4765660

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

D Gompertz, K Bartlett, D Blair, C M Stern.   

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Year:  1973        PMID： 4765660      PMCID： PMC1648668          DOI： 10.1136/adc.48.12.975

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  5 in total

1.  Biotin-responsive beta-methylcrotonylglycinuria.

Authors:  D Gompertz; G H Draffan; J L Watts; D Hull
Journal:  Lancet       Date:  1971-07-03       Impact factor: 79.321

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

Authors:  L Eldjarn; E Jellum; O Stokke; H Pande; P E Waaler
Journal:  Lancet       Date:  1970-09-05       Impact factor: 79.321

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

Authors:  O Stokke; L Eldjarn; E Jellum; H Pande; P E Waaler
Journal:  Pediatrics       Date:  1972-05       Impact factor: 7.124

4.  The identification of tiglylglycine in the urine of a child with -methylcrotonylglycinuria.

Authors:  D Gompertz; G H Draffan
Journal:  Clin Chim Acta       Date:  1972-03       Impact factor: 3.786

5.  The gas-chromatographic diagnosis of intermittent maple syrup urine disease (branch-chain ketoaciduria).

Authors:  D Gompertz; G H Draffan
Journal:  Clin Chim Acta       Date:  1972-08       Impact factor: 3.786
  5 in total
  10 in total

Review 1.  The biotin-dependent carboxylase deficiencies.

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

2.  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

3.  Megavitamin therapy in inherited metabolic disorders.

Authors:  S C Kalhan
Journal:  Indian J Pediatr       Date:  1981 Sep-Oct       Impact factor: 1.967

4.  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

5.  Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.

Authors:  M Saunders; L Sweetman; B Robinson; K Roth; R Cohn; R A Gravel
Journal:  J Clin Invest       Date:  1979-12       Impact factor: 14.808

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

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

7.  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

8.  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

9.  Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.

Authors:  M E Saunders; W G Sherwood; M Duthie; L Surh; R A Gravel
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025

10.  Inherited disorders of 3-methylcrotonyl CoA carboxylation.

Authors:  J V Leonard; J W Seakins; K Bartlett; J Hyde; J Wilson; B Clayton
Journal:  Arch Dis Child       Date:  1981-01       Impact factor: 3.791
  10 in total

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