Dorland L - Search Results

1

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT. Houten SM, et al. Among authors: dorland l. Nat Genet. 1999 Jun;22(2):175-7. doi: 10.1038/9691. Nat Genet. 1999. PMID: 10369261

2

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Among authors: dorland l. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

3

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

Langius FA, Waterham HR, Romeijn GJ, Oostheim W, de Barse MM, Dorland L, Duran M, Beemer FA, Wanders RJ, Poll-The BT. Langius FA, et al. Among authors: dorland l. Am J Med Genet A. 2003 Sep 15;122A(1):24-9. doi: 10.1002/ajmg.a.20207. Am J Med Genet A. 2003. PMID: 12949967

4

Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

Poll-The BT, Frenkel J, Houten SM, Kuis W, Duran M, de Koning TJ, Dorland L, de Barse MM, Romeijn GJ, Wanders RJ, Waterham HR. Poll-The BT, et al. Among authors: dorland l. J Inherit Metab Dis. 2000 Jun;23(4):363-6. doi: 10.1023/a:1005635431364. J Inherit Metab Dis. 2000. PMID: 10896295 No abstract available.

5

Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome.

Frenkel J, Willemsen MA, Weemaes CM, Dorland L, Mayatepek E. Frenkel J, et al. Among authors: dorland l. Arch Dis Child. 2001 Aug;85(2):158-9. doi: 10.1136/adc.85.2.158. Arch Dis Child. 2001. PMID: 11466192 Free PMC article.

6

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

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

8

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.

de Koning TJ, Toet M, Dorland L, de Vries LS, van den Berg IE, Duran M, Poll-The BT. de Koning TJ, et al. Among authors: dorland l. J Inherit Metab Dis. 1998 Aug;21(6):681-2. doi: 10.1023/a:1005496920435. J Inherit Metab Dis. 1998. PMID: 9762608 No abstract available.

9

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. Among authors: dorland l. 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.

10

Selective screening for amino acid disorders.

Duran M, Dorland L, de Bree PK, Berger R. Duran M, et al. Among authors: dorland l. Eur J Pediatr. 1994;153(7 Suppl 1):S33-7. doi: 10.1007/BF02138775. Eur J Pediatr. 1994. PMID: 7957384

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