Smeitink J - 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. Among authors: smeitink j. 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

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. Among authors: smeitink ja. Am J Hum Genet. 1995 Feb;56(2):381-7. Am J Hum Genet. 1995. PMID: 7847371 Free PMC article.

3

Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency.

Bergman AJ, Donckerwolcke RA, Duran M, Smeitink JA, Mousson B, Vianey-Saban C, Poll-The BT. Bergman AJ, et al. Among authors: smeitink ja. Pediatr Res. 1994 Nov;36(5):582-8. doi: 10.1203/00006450-199411000-00007. Pediatr Res. 1994. PMID: 7877875 Review.

4

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. Among authors: smeitink ja. Eur J Pediatr. 1994 Apr;153(4):264-6. doi: 10.1007/BF01954516. Eur J Pediatr. 1994. PMID: 8194560

5

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. Among authors: smeitink ja. 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.

6

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. Among authors: smeitink ja. Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351. Hum Hered. 1996. PMID: 8807319

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

8

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. Among authors: smeitink ja. J Inherit Metab Dis. 1997 Aug;20(4):473-85. doi: 10.1023/a:1005385009831. J Inherit Metab Dis. 1997. PMID: 9266383

9

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

van der Put NM, Gabreëls F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ. van der Put NM, et al. Among authors: smeitink ja. Am J Hum Genet. 1998 May;62(5):1044-51. doi: 10.1086/301825. Am J Hum Genet. 1998. PMID: 9545395 Free PMC article.

10

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: smeitink ja. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

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