Literature DB >> 91680

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

M Duran, R B Schutgens, A Ketel, H Heymans, M W Bertssen, D Ketting, S K Wadman.   

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Year:  1979        PMID: 91680     DOI: 10.1016/s0022-3476(79)80297-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  15 in total

1.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: biochemical studies and family investigation of four generations.

Authors:  V Barash; H Mandel; S Sella; R Geiger
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  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

3.  3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.

Authors:  M Dasouki; D Buchanan; N Mercer; K M Gibson; J Thoene
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.

Authors:  R A Chalmers; B M Tracey; J Mistry; T E Stacey; I R McFadyen
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

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

Authors:  A Ketel; J L Ket; R B Schutgens; M Duran; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

Review 6.  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

7.  Prenatal diagnosis of the organic acidurias.

Authors:  L Sweetman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia.

Authors:  P T Ozand; A al Aqeel; G Gascon; J Brismar; E Thomas; H Gleispach
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

9.  Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management.

Authors:  T E Stacey; C de Sousa; B M Tracey; A Whitelaw; J Mistry; P Timbrell; R A Chalmers
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

10.  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

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