287 related articles for article (PubMed ID: 1570195)
1. 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]
2. [Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death].
Lecoq I; Mallet E; Bonté JB; Laroche D; Travert G
C R Seances Soc Biol Fil; 1995; 189(2):295-301. PubMed ID: 8590228
[TBL] [Abstract][Full Text] [Related]
3. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
Brackett JC; Sims HF; Steiner RD; Nunge M; Zimmerman EM; deMartinville B; Rinaldo P; Slaugh R; Strauss AW
J Clin Invest; 1994 Oct; 94(4):1477-83. PubMed ID: 7929823
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.
Penzien JM; Molz G; Wiesmann UN; Colombo JP; Bühlmann R; Wermuth B
Eur J Pediatr; 1994 May; 153(5):352-7. PubMed ID: 8033926
[TBL] [Abstract][Full Text] [Related]
6. The sudden infant death syndrome gene: does it exist?
Opdal SH; Rognum TO
Pediatrics; 2004 Oct; 114(4):e506-12. PubMed ID: 15466077
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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).
Dundar M; Lanyon WG; Connor JM
J Inherit Metab Dis; 1993; 16(6):991-3. PubMed ID: 8127075
[TBL] [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. Rapid testing for the MCAD G583A mutation, by PCR-mediated site directed mutagenesis, in an Australian population of SIDS patients.
Ryan A; McGill J; Mountain H
Dis Markers; 1997 Apr; 13(2):131-4. PubMed ID: 9160189
[TBL] [Abstract][Full Text] [Related]
11. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
Ziadeh R; Hoffman EP; Finegold DN; Hoop RC; Brackett JC; Strauss AW; Naylor EW
Pediatr Res; 1995 May; 37(5):675-8. PubMed ID: 7603790
[TBL] [Abstract][Full Text] [Related]
12. A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).
Andresen BS; Bross P; Jensen TG; Winter V; Knudsen I; Kølvraa S; Jensen UB; Bolund L; Duran M; Kim JJ
Am J Hum Genet; 1993 Sep; 53(3):730-9. PubMed ID: 8102510
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency.
Coates PM; Indo Y; Young D; Hale DE; Tanaka K
Pediatr Res; 1992 Jan; 31(1):34-8. PubMed ID: 1594327
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Yang BZ; Ding JH; Zhou C; Dimachkie MM; Sweetman L; Dasouki MJ; Wilkinson J; Roe CR
Mol Genet Metab; 2000 Mar; 69(3):259-62. PubMed ID: 10767181
[TBL] [Abstract][Full Text] [Related]
17. Medium-chain acyl-CoA dehydrogenase deficiency.
Egidio RJ; Francis GL; Coates PM; Hale DE; Roesel A
Am Fam Physician; 1989 May; 39(5):221-6. PubMed ID: 2718899
[TBL] [Abstract][Full Text] [Related]
18. Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
Yokota I; Coates PM; Hale DE; Rinaldo P; Tanaka K
Am J Hum Genet; 1991 Dec; 49(6):1280-91. PubMed ID: 1684086
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: the effect of oral riboflavin supplementation.
Duran M; Cleutjens CB; Ketting D; Dorland L; de Klerk JB; van Sprang FJ; Berger R
Pediatr Res; 1992 Jan; 31(1):39-42. PubMed ID: 1594328
[TBL] [Abstract][Full Text] [Related]
20. Whole blood levels of dodecanoic acid, a routinely detectable forensic marker for a genetic disease often misdiagnosed as sudden infant death syndrome (SIDS): MCAD deficiency.
Kemp PM; Little BB; Bost RO; Dawson DB
Am J Forensic Med Pathol; 1996 Mar; 17(1):79-82. PubMed ID: 8838477
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]