Poll-The BT - Search Results

1

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ. Bramswig NC, et al. Hum Genet. 2015 Oct;134(10):1089-97. doi: 10.1007/s00439-015-1590-1. Epub 2015 Aug 12. Hum Genet. 2015. PMID: 26264464

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. 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

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

van den Berg IE, van Beurden EA, Malingré HE, van Amstel HK, Poll-The BT, Smeitink JA, Lamers WH, Berger R. van den Berg IE, et al. Am J Hum Genet. 1995 Feb;56(2):381-7. Am J Hum Genet. 1995. PMID: 7847371 Free PMC article.

4

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK. van der Sijs-Bos CJ, et al. Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351. Hum Hered. 1996. PMID: 8807319

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

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.

Barth PG, Majoie CB, Gootjes J, Wanders RJ, Waterham HR, van der Knaap MS, de Klerk JB, Smeitink J, Poll-The BT. Barth PG, et al. Neurology. 2004 Feb 10;62(3):439-44. doi: 10.1212/01.wnl.0000106943.40848.03. Neurology. 2004. PMID: 14872027

7

Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.

Motley AM, Tabak HF, Smeitink JA, Poll-The BT, Barth PG, Wanders RJ. Motley AM, et al. Biochim Biophys Acta. 1996 Apr 12;1315(3):153-8. doi: 10.1016/0925-4439(95)00114-x. Biochim Biophys Acta. 1996. PMID: 8611652 Free article.

8

TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F. Namavar Y, et al. Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368912 Free PMC article.

9

Abnormal glutathione conjugation in patients with tyrosinaemia type I.

Mulders TM, Bergman DJ, Poll-The BT, Smit GP, Breimer DD, Mulder GJ, Duran M, Smeitink JA. Mulders TM, et al. J Inherit Metab Dis. 1997 Aug;20(4):473-85. doi: 10.1023/a:1005385009831. J Inherit Metab Dis. 1997. PMID: 9266383

10

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.

Beekman RP, Hofstee N, Smeitink JA, Poll-The BT, Duran M. Beekman RP, et al. Eur J Pediatr. 1994 Apr;153(4):264-6. doi: 10.1007/BF01954516. Eur J Pediatr. 1994. PMID: 8194560

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