Dorland L - Search Results

1

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.

2

Formiminoglutamic/hydantoinpropionic aciduria in two siblings.

Duran M, Dorland L, Meuleman EE, Renardel de Lavalette PA, Poll-The BT, Berger R. Duran M, et al. Among authors: dorland l. J Inherit Metab Dis. 1993;16(1):155-6. doi: 10.1007/BF00711330. J Inherit Metab Dis. 1993. PMID: 8487495 No abstract available.

3

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.

4

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.

5

Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.

De Koning TJ, Duran M, Van Maldergem L, Pineda M, Dorland L, Gooskens R, Jaeken J, Poll-The BT. De Koning TJ, et al. Among authors: dorland l. J Inherit Metab Dis. 2002 May;25(2):119-25. doi: 10.1023/a:1015624726822. J Inherit Metab Dis. 2002. PMID: 12118526

6

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

7

Trimethylaminuria, diagnosed by gas chromatography with nitrogen detection.

Dorland L, de Vries T, van Vossen R, Duran M, Wadman SK, Mienie LJ. Dorland L, et al. J Inherit Metab Dis. 1987;10(4):401-2. doi: 10.1007/BF01799986. J Inherit Metab Dis. 1987. PMID: 3126363 No abstract available.

8

A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis.

de Klerk JB, Duran M, Dorland L, Brouwers HA, Bruinvis L, Ketting D. de Klerk JB, et al. Among authors: dorland l. J Inherit Metab Dis. 1988;11 Suppl 2:233-6. doi: 10.1007/BF01804244. J Inherit Metab Dis. 1988. PMID: 3141709 No abstract available.

9

Cerebrospinal fluid organic acids in biotinidase deficiency.

Duran M, Baumgartner ER, Suormala TM, Bruinvis L, Dorland L, Smeitink JA, Poll-The BT. Duran M, et al. Among authors: dorland l. J Inherit Metab Dis. 1993;16(3):513-6. doi: 10.1007/BF00711668. J Inherit Metab Dis. 1993. PMID: 7609439 Clinical Trial. No abstract available.

10

Peroxisomal disorders: a review.

Fournier B, Smeitink JA, Dorland L, Berger R, Saudubray JM, Poll-The BT. Fournier B, et al. Among authors: dorland l. J Inherit Metab Dis. 1994;17(4):470-86. doi: 10.1007/BF00711362. J Inherit Metab Dis. 1994. PMID: 7967497 Review.

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