Engel PC - Search Results

1

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.

Kølvraa S, Gregersen N, Blakemore AI, Schneidermann AK, Winter V, Andresen BS, Curtis D, Engel PC, Pricille D, Rhead W, et al. Kølvraa S, et al. Among authors: engel pc. Hum Genet. 1991 Aug;87(4):425-8. doi: 10.1007/BF00197161. Hum Genet. 1991. PMID: 1679031

2

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N. Andresen BS, et al. Am J Hum Genet. 2001 Jun;68(6):1408-18. doi: 10.1086/320602. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349232 Free PMC article.

3

Medium chain acyl-CoA dehydrogenase deficiency in the United Kingdom.

Curtis D, Blakemore AI, Engel PC, Kolvraa S, Gregersen N, Pollitt RJ. Curtis D, et al. Among authors: engel pc. Prog Clin Biol Res. 1992;375:489-94. Prog Clin Biol Res. 1992. PMID: 1438392 No abstract available.

4

Localisation of RFLPs of the medium chain acyl-CoA dehydrogenase gene.

Blakemore AI, Kolvraa S, Gregersen N, Engel PC, Curtis D. Blakemore AI, et al. Among authors: engel pc. Hum Genet. 1991 Mar;86(5):537-8. doi: 10.1007/BF00194652. Hum Genet. 1991. PMID: 1673116

5

Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population.

Curtis D, Blakemore AI, Engel PC, Macgregor D, Besley G, Kolvraa S, Gregersen N. Curtis D, et al. Among authors: engel pc. Clin Genet. 1991 Oct;40(4):283-6. doi: 10.1111/j.1399-0004.1991.tb03097.x. Clin Genet. 1991. PMID: 1756601

6

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

Gregersen N, Blakemore AI, Winter V, Andresen B, Kølvraa S, Bolund L, Curtis D, Engel PC. Gregersen N, et al. Among authors: engel pc. Clin Chim Acta. 1991 Nov 9;203(1):23-34. doi: 10.1016/0009-8981(91)90153-4. Clin Chim Acta. 1991. PMID: 1769118

7

BamHI and MspI RFLP's in strong linkage disequilibrium at the medium chain acyl-coenzyme A dehydrogenase locus (ACADM chromosome 1).

Blakemore AI, Engel PC, Curtis D. Blakemore AI, et al. Among authors: engel pc. Nucleic Acids Res. 1990 May 11;18(9):2838. Nucleic Acids Res. 1990. PMID: 1692618 Free PMC article. No abstract available.

8

PstI RFLP at the medium chain acyl-coenzyme A dehydrogenase locus (ACADM chromosome 1).

Blakemore AI, Engel PC, Curtis D. Blakemore AI, et al. Among authors: engel pc. Nucleic Acids Res. 1990 May 11;18(9):2838. Nucleic Acids Res. 1990. PMID: 1971104 Free PMC article. No abstract available.

9

Biochemical characterisation of mutations of human medium-chain acyl-CoA dehydrogenase.

Udvari S, Bross P, Andresen BS, Gregersen N, Engel PC. Udvari S, et al. Among authors: engel pc. Adv Exp Med Biol. 1999;466:387-93. doi: 10.1007/0-306-46818-2_45. Adv Exp Med Biol. 1999. PMID: 10709667 No abstract available.

10

Mutations of human medium-chian acyl-CoA dehydrogenase.

Udvari S, Bross P, Andresen BS, Gregersen N, Engel PC. Udvari S, et al. Among authors: engel pc. Biochem Soc Trans. 1998 Feb;26(1):S65. doi: 10.1042/bst026s065. Biochem Soc Trans. 1998. PMID: 10909823 No abstract available.

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