Duran M - Search Results

1

Prenatal diagnosis in adenylosuccinate lyase deficiency.

Marie S, Flipsen JW, Duran M, Poll-The BT, Beemer FA, Bosschaart AN, Vincent MF, Van den Berghe G. Marie S, et al. Among authors: duran m. Prenat Diagn. 2000 Jan;20(1):33-6. doi: 10.1002/(sici)1097-0223(200001)20:1<33::aid-pd751>3.0.co;2-3. Prenat Diagn. 2000. PMID: 10701848

2

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

Jaeken J, Wadman SK, Duran M, van Sprang FJ, Beemer FA, Holl RA, Theunissen PM, de Cock P, van den Bergh F, Vincent MF, et al. Jaeken J, et al. Among authors: duran m. Eur J Pediatr. 1988 Nov;148(2):126-31. doi: 10.1007/BF00445919. Eur J Pediatr. 1988. PMID: 3234432

3

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Sjarif DR, Sinke RJ, Duran M, Beemer FA, Kleijer WJ, Ploos van Amstel JK, Poll-The BT. Sjarif DR, et al. Among authors: duran m. J Med Genet. 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650. J Med Genet. 1998. PMID: 9719371 Free PMC article.

4

Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency.

Kerckaert I, Poll-The BT, Espeel M, Duran M, Roeleveld AB, Wanders RJ, Roels F. Kerckaert I, et al. Among authors: duran m. Virchows Arch. 2000 May;436(5):459-65. doi: 10.1007/s004280050473. Virchows Arch. 2000. PMID: 10881739

5

Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.

van den Bergh FA, Bosschaart AN, Hageman G, Duran M, Tien Poll-The B. van den Bergh FA, et al. Among authors: duran m. Neuropediatrics. 1998 Feb;29(1):51-3. doi: 10.1055/s-2007-973536. Neuropediatrics. 1998. PMID: 9553952

6

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT. Sjarif DR, et al. Among authors: duran m. Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172. Eur J Hum Genet. 2004. PMID: 15026783

7

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA. Ausems MG, et al. Among authors: duran m. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

8

Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli.

Vreken P, van Kuilenburg AB, Meinsma R, Beemer FA, Duran M, van Gennip AH. Vreken P, et al. Among authors: duran m. J Inherit Metab Dis. 1998 Jun;21(3):276-9. doi: 10.1023/a:1005380525218. J Inherit Metab Dis. 1998. PMID: 9686374 No abstract available.

9

The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency.

Costa CG, Dorland L, de Almeida IT, Jakobs C, Duran M, Poll-The BT. Costa CG, et al. Among authors: duran m. J Inherit Metab Dis. 1998 Jun;21(4):391-9. doi: 10.1023/a:1005354624735. J Inherit Metab Dis. 1998. PMID: 9700596

10

Isolated and contiguous glycerol kinase gene disorders: a review.

Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. Among authors: duran m. J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652. J Inherit Metab Dis. 2000. PMID: 11032329 Review.

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