Literature DB >> 6158624

Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.

A Ketel, J L Ket, R B Schutgens, M Duran, S K Wadman.   

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Year:  1980        PMID: 6158624     DOI: 10.1007/BF02312535

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  5 in total

1.  Letter: Patient with defect in leucine metabolism.

Authors:  K Faull; P Bolton; B Halpern; J Hammond; D M Danks; R Hähnel; S P Wilkinson; S J Wysocki; P L Masters
Journal:  N Engl J Med       Date:  1976-04-29       Impact factor: 91.245

2.  Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutarylcoenzyme A lyase.

Authors:  R B Schutgens; H Heymans; A Ketel; H A Veder; M Duran; D Ketting; S K Wadman
Journal:  J Pediatr       Date:  1979-01       Impact factor: 4.406

3.  3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria.

Authors:  S J Wysocki; S P Wilkinson; R Hähnel; C Y Wong; P K Panegyres
Journal:  Clin Chim Acta       Date:  1976-08-02       Impact factor: 3.786

4.  3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine.

Authors:  M Duran; R B Schutgens; A Ketel; H Heymans; M W Bertssen; D Ketting; S K Wadman
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406

5.  Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.

Authors:  M Duran; D Ketting; S K Wadman; C Jakobs; R B Schutgens; H A Veder
Journal:  Clin Chim Acta       Date:  1978-12-01       Impact factor: 3.786

  5 in total
  4 in total

1.  3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Authors:  S J Wysocki; R Hähnel
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

Review 2.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

Authors:  K M Gibson; J Breuer; W L Nyhan
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

3.  A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  W G Wilson; M B Cass; O Søvik; K M Gibson; L Sweetman
Journal:  Eur J Pediatr       Date:  1984-09       Impact factor: 3.183

4.  Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.

Authors:  O Sovik; L Sweetman; K M Gibson; W L Nyhan
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025

  4 in total

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