208 related articles for article (PubMed ID: 1438394)
1. Mutations causing medium-chain acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency.
Prog Clin Biol Res; 1992; 375():499-506. PubMed ID: 1438394
[No Abstract] [Full Text] [Related]
2. Characterization of medium-chain acyl-CoA dehydrogenase (MCAD) with a point mutation associated with MCAD deficiency.
Bross P; Jensen T; Kräutle F; Winter V; Andresen BS; Engst S; Bolund L; Kølvraa S; Ghisla S; Rasched I
Prog Clin Biol Res; 1992; 375():473-8. PubMed ID: 1438390
[No Abstract] [Full Text] [Related]
3. Molecular characterization of medium-chain acyl-CoA dehydrogenase deficiency causing sudden death.
Kelly DP; Whelan AJ; Hale DE; Rinaldo P; Rutledge SL; Zhang Z; Strauss AW
Prog Clin Biol Res; 1992; 375():463-72. PubMed ID: 1438388
[No Abstract] [Full Text] [Related]
4. The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.
Yokota I; Coates PM; Hale DE; Rinaldo P; Tanaka K
Prog Clin Biol Res; 1992; 375():425-40. PubMed ID: 1359563
[No Abstract] [Full Text] [Related]
5. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
Tanaka K; Yokota I; Coates PM; Strauss AW; Kelly DP; Zhang Z; Gregersen N; Andresen BS; Matsubara Y; Curtis D
Hum Mutat; 1992; 1(4):271-9. PubMed ID: 1363805
[TBL] [Abstract][Full Text] [Related]
6. Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach.
Gregersen N; Winter V; Kølvraa S; Andresen BS; Bross P; Blakemore A; Curtis D; Bolund L
Prog Clin Biol Res; 1992; 375():441-52. PubMed ID: 1438387
[No Abstract] [Full Text] [Related]
7. Medium chain acyl-CoA dehydrogenase deficiency in the United Kingdom.
Curtis D; Blakemore AI; Engel PC; Kolvraa S; Gregersen N; Pollitt RJ
Prog Clin Biol Res; 1992; 375():489-94. PubMed ID: 1438392
[No Abstract] [Full Text] [Related]
8. Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.
Matsubara Y; Narisawa K; Tada K; Ikeda H; Yeqi Y; Danks DM; Green A; McCabe ER
Prog Clin Biol Res; 1992; 375():453-62. PubMed ID: 1359564
[No Abstract] [Full Text] [Related]
9. Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.
Andresen BS; Bross P; Jensen TG; Knudsen I; Winter V; Kølvraa S; Bolund L; Gregersen N
Scand J Clin Lab Invest Suppl; 1995; 220():9-25. PubMed ID: 7652482
[TBL] [Abstract][Full Text] [Related]
10. Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population.
Kozàk L; Hrabincovà E; Rudolfoà J; Vràbelovà S; Freiberger T
Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():49-50. PubMed ID: 11400780
[TBL] [Abstract][Full Text] [Related]
11. Historical perspective of medium-chain acyl-CoA dehydrogenase deficiency: a decade of discovery.
Coates PM
Prog Clin Biol Res; 1992; 375():409-23. PubMed ID: 1438385
[No Abstract] [Full Text] [Related]
12. Frequency of G-985 mutation in medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in sudden infant death syndrome (SIDS).
Miller M; Brooks J; Forbes N; Insel R
Prog Clin Biol Res; 1992; 375():495-8. PubMed ID: 1438393
[No Abstract] [Full Text] [Related]
13. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
Gregersen N; Andresen BS; Corydon MJ; Corydon TJ; Olsen RK; Bolund L; Bross P
Hum Mutat; 2001 Sep; 18(3):169-89. PubMed ID: 11524729
[TBL] [Abstract][Full Text] [Related]
14. Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.
Miller ME; Brooks JG; Forbes N; Insel R
Pediatr Res; 1992 Apr; 31(4 Pt 1):305-7. PubMed ID: 1570195
[TBL] [Abstract][Full Text] [Related]
15. [Medium-chain acyl-CoA dehydrogenase deficiency].
Kimura M; Yamaguchi S
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):414-6. PubMed ID: 9590087
[No Abstract] [Full Text] [Related]
16. [Medium chain Acyl-Coa Dehydrogenase deficiency. A diagnostic challenge for clinicians and laboratory].
Heinonen OJ; Iitiä A; Irjala K; Pulkki K
Duodecim; 1996; 112(1):35-41. PubMed ID: 10590599
[No Abstract] [Full Text] [Related]
17. Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency.
Ikeda Y; Hale DE; Keese SM; Coates PM; Tanaka K
Pediatr Res; 1986 Sep; 20(9):843-7. PubMed ID: 3748657
[TBL] [Abstract][Full Text] [Related]
18. Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles.
Ding JH; Bross P; Yang BZ; Iafolla AK; Millington DS; Roe CR; Gregersen N; Chen YT
Prog Clin Biol Res; 1992; 375():479-88. PubMed ID: 1438391
[No Abstract] [Full Text] [Related]
19. High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies.
Martinez G; Garcia-Lozano JR; Ribes A; Maldonado MD; Baldellou A; de Pablo R; Nuñez-Roldan A
Pediatr Res; 1998 Jul; 44(1):83-4. PubMed ID: 9667375
[TBL] [Abstract][Full Text] [Related]
20. Medium chain acyl CoA dehydrogenase deficiency.
Lancet; 1991 Aug; 338(8766):544-5. PubMed ID: 1678805
[No Abstract] [Full Text] [Related]
[Next] [New Search]