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Page 1
Afamelanotide for Erythropoietic Protoporphyria.
N Engl J Med. 2015 Jul 2;373(1):48-59. doi: 10.1056/NEJMoa1411481.
N Engl J Med. 2015.
PMID: 26132941
Free PMC article.
Clinical Trial.
[Adults with an inherited metabolic disorder: a rapidly growing population with unique challenges].
Werkgroep INVEST.
Werkgroep INVEST.
Ned Tijdschr Geneeskd. 2014;158:A7745.
Ned Tijdschr Geneeskd. 2014.
PMID: 25096043
Review.
Dutch.
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Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.
Brands MM, Güngör D, van den Hout JM, Karstens FP, Oussoren E, Plug I, Boelens JJ, van Hasselt PM, Hollak CE, Mulder MF, Rubio Gozalbo E, Smeitink JA, Smit GP, Wijburg FA, Meutgeert H, van der Ploeg AT.
Brands MM, et al. Among authors: karstens fp.
J Inherit Metab Dis. 2015 Mar;38(2):323-31. doi: 10.1007/s10545-014-9737-0. Epub 2014 Jul 22.
J Inherit Metab Dis. 2015.
PMID: 25048386
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A series of pregnancies in women with inherited metabolic disease.
Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, de Klerk JB, Maritz C, Ben-Omran T, Williamson C, Lachmann RH, Murphy E.
Langendonk JG, et al. Among authors: karstens fp.
J Inherit Metab Dis. 2012 May;35(3):419-24. doi: 10.1007/s10545-011-9389-2. Epub 2011 Sep 15.
J Inherit Metab Dis. 2012.
PMID: 21918856
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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber CG, Verschuuren JJ, Kruijshaar ME, Reuser AJ, van Doorn PA, van der Ploeg AT.
de Vries JM, et al. Among authors: karstens fp.
Orphanet J Rare Dis. 2012 Sep 26;7:73. doi: 10.1186/1750-1172-7-73.
Orphanet J Rare Dis. 2012.
PMID: 23013746
Free PMC article.
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Clinical pathways for inborn errors of metabolism: warranted and feasible.
Demirdas S, van Kessel IN, Korndewal MJ, Hollak CE, Meutgeert H, Klaren A, van Rijn M, van Spronsen FJ, Bosch AM; Dutch working Group.
Demirdas S, et al.
Orphanet J Rare Dis. 2013 Feb 25;8:37. doi: 10.1186/1750-1172-8-37.
Orphanet J Rare Dis. 2013.
PMID: 23442887
Free PMC article.
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