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Page 1
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. Morava E, et al. Among authors: van hasselt p, van spronsen fj. J Inherit Metab Dis. 2016 Sep;39(5):759. doi: 10.1007/s10545-016-9967-4. J Inherit Metab Dis. 2016. PMID: 27498540 No abstract available.
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria.
Hoeksma M, Van Rijn M, Verkerk PH, Bosch AM, Mulder MF, de Klerk JB, de Koning TJ, Rubio-Gozalbo E, de Vries M, Sauer PJ, van Spronsen FJ. Hoeksma M, et al. Among authors: van rijn m, van spronsen fj. J Inherit Metab Dis. 2005;28(6):845-54. doi: 10.1007/s10545-005-0122-x. J Inherit Metab Dis. 2005. PMID: 16435176
Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?
Koelink CJ, van Hasselt P, van der Ploeg A, van den Heuvel-Eibrink MM, Wijburg FA, Bijleveld CM, van Spronsen FJ. Koelink CJ, et al. Among authors: van den heuvel eibrink mm, van hasselt p, van der ploeg a, van spronsen fj. Mol Genet Metab. 2006 Dec;89(4):310-5. doi: 10.1016/j.ymgme.2006.07.009. Epub 2006 Sep 27. Mol Genet Metab. 2006. PMID: 17008115
[The right medicine for cerebrotendinous xanthomatosis].
Verrips A, Wevers RA, van Spronsen FJ, Sikkens H. Verrips A, et al. Among authors: van spronsen fj. Ned Tijdschr Geneeskd. 2009 Apr 11;153(15):726-7. Ned Tijdschr Geneeskd. 2009. PMID: 19452779 Dutch. No abstract available.
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.
Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E. Mohamed M, et al. Among authors: van spronsen fj. Biochim Biophys Acta. 2011 Jun;1812(6):691-8. doi: 10.1016/j.bbadis.2011.02.011. Epub 2011 Mar 17. Biochim Biophys Acta. 2011. PMID: 21362473 Free article.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Among authors: van spronsen fj, van den heuvel l. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991
254 results