Poll-The BT - Search Results

1

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT. Cleary MA, et al. J Inherit Metab Dis. 2005;28(5):673-9. doi: 10.1007/s10545-005-0074-1. J Inherit Metab Dis. 2005. PMID: 16151897

2

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. 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.

3

Peroxisomal disorders: a review.

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

4

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. J Inherit Metab Dis. 1993;16(1):155-6. doi: 10.1007/BF00711330. J Inherit Metab Dis. 1993. PMID: 8487495 No abstract available.

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

Alterations of hepatic peroxisomes in tyrosinaemia type I: return to fetal type?

Kerckaert I, de Koning TJ, Poll-The BT, Roels F. Kerckaert I, et al. J Inherit Metab Dis. 1998 Jun;21(3):186-90. doi: 10.1023/a:1005351129336. J Inherit Metab Dis. 1998. PMID: 9686353 No abstract available.

7

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. 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.

8

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.

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. 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

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gozalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M. Spaapen LJ, et al. J Inherit Metab Dis. 2001 Jun;24(3):352-8. doi: 10.1023/a:1010596317296. J Inherit Metab Dis. 2001. PMID: 11486900

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