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11 in total

1. Frequency of the G985 MCAD mutation in the general population.

Authors: A I Blakemore; H Singleton; R J Pollitt; P C Engel; S Kolvraa; N Gregersen; D Curtis
Journal: Lancet Date: 1991-02-02 Impact factor: 79.321

2. Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.

Authors: M E Miller; J G Brooks; N Forbes; R Insel
Journal: Pediatr Res Date: 1992-04 Impact factor: 3.756

3. Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening.

Authors: D C Jinks; M Minter; D A Tarver; M Vanderford; J F Hejtmancik; E R McCabe
Journal: Hum Genet Date: 1989-03 Impact factor: 4.132

4. Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.

Authors: Y Matsubara; K Narisawa; K Tada; H Ikeda; Y Q Yao; D M Danks; A Green; E R McCabe
Journal: Lancet Date: 1991-08-31 Impact factor: 79.321

5. Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

Authors: N Gregersen; V Winter; S Lyonnet; J M Saudubray; U Wendel; T G Jensen; B S Andresen; S Kølvraa; W Lehnert; L Bolund
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982

6. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Authors: J L Van Hove; W Zhang; S G Kahler; C R Roe; Y T Chen; N Terada; D H Chace; A K Iafolla; J H Ding; D S Millington
Journal: Am J Hum Genet Date: 1993-05 Impact factor: 11.025

7. Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

Authors: M Duran; M Hofkamp; W J Rhead; J M Saudubray; S K Wadman
Journal: Pediatrics Date: 1986-12 Impact factor: 7.124

8. The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome.

Authors: J B Lundemose; N Gregersen; S Kølvraa; B Nørgaard Pedersen; M Gregersen; K Helweg-Larsen; J Simonsen
Journal: Acta Paediatr Date: 1993 Jun-Jul Impact factor: 2.299

9. Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS).

Authors: M Dundar; W G Lanyon; J M Connor
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

10. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.

Authors: N Gregersen; V Winter; D Curtis; T Deufel; M Mack; J Hendrickx; P J Willems; A Ponzone; T Parrella; R Ponzone
Journal: Hum Hered Date: 1993 Nov-Dec Impact factor: 0.444

2 in total

1. Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France.

Authors: B Fromenty; A Mansouri; J P Bonnefont; F Courtois; A Munnich; D Rabier
Journal: Hum Genet Date: 1996-03 Impact factor: 4.132

2. The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene: high prevalence in the Swiss population resident in Geneva.

Authors: B Conne; R Zufferey; D Belin
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

2 in total