Poll-The BT - 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. 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

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. 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.

3

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. Virchows Arch. 2000 May;436(5):459-65. doi: 10.1007/s004280050473. Virchows Arch. 2000. PMID: 10881739

4

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. Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172. Eur J Hum Genet. 2004. PMID: 15026783

5

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. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

6

Isolated glycerol kinase deficiency and Fanconi anemia.

Sjarif DR, Révész T, de Koning TJ, Duran M, Beemer FA, Poll-The BT. Sjarif DR, et al. Am J Med Genet. 2001 Mar 1;99(2):159-60. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1137>3.0.co;2-4. Am J Med Genet. 2001. PMID: 11241478 No abstract available.

7

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. J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652. J Inherit Metab Dis. 2000. PMID: 11032329 Review.

8

Hyperketonaemia in glycerol kinase deficiency.

Sjarif DR, Dorland L, Sperl W, de Koning TJ, Beemer FA, Poll-The BT, Duran M. Sjarif DR, et al. J Inherit Metab Dis. 2000 Nov;23(7):760-4. doi: 10.1023/a:1005680211483. J Inherit Metab Dis. 2000. PMID: 11117440 No abstract available.

9

Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.

Espeel M, Heikoop JC, Smeitink JA, Beemer FA, De Craemer D, Van den Berg M, Hashimoto T, Wanders RJ, Schutgens RB, Poll-The BT, et al. Espeel M, et al. Ultrastruct Pathol. 1993 Nov-Dec;17(6):623-36. doi: 10.3109/01913129309027798. Ultrastruct Pathol. 1993. PMID: 8122328

10

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. J Inherit Metab Dis. 1998 Jun;21(4):391-9. doi: 10.1023/a:1005354624735. J Inherit Metab Dis. 1998. PMID: 9700596

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