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Zellweger spectrum disorders: clinical overview and management approach.
Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT. Klouwer FC, et al. Among authors: engelen m. Orphanet J Rare Dis. 2015 Dec 1;10:151. doi: 10.1186/s13023-015-0368-9. Orphanet J Rare Dis. 2015. PMID: 26627182 Free PMC article. Review.
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.
Klouwer FC, Huffnagel IC, Ferdinandusse S, Waterham HR, Wanders RJ, Engelen M, Poll-The BT. Klouwer FC, et al. Among authors: engelen m. Neuropediatrics. 2016 Aug;47(4):205-20. doi: 10.1055/s-0036-1582140. Epub 2016 Apr 18. Neuropediatrics. 2016. PMID: 27089543 Review.
Cholic acid therapy in Zellweger spectrum disorders.
Berendse K, Klouwer FC, Koot BG, Kemper EM, Ferdinandusse S, Koelfat KV, Lenicek M, Schaap FG, Waterham HR, Vaz FM, Engelen M, Jansen PL, Wanders RJ, Poll-The BT. Berendse K, et al. Among authors: engelen m. J Inherit Metab Dis. 2016 Nov;39(6):859-868. doi: 10.1007/s10545-016-9962-9. Epub 2016 Jul 28. J Inherit Metab Dis. 2016. PMID: 27469511 Free PMC article.
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
Koens LH, Kuiper A, Coenen MA, Elting JW, de Vries JJ, Engelen M, Koelman JH, van Spronsen FJ, Spikman JM, de Koning TJ, Tijssen MA. Koens LH, et al. Among authors: engelen m. Orphanet J Rare Dis. 2016 Sep 1;11(1):121. doi: 10.1186/s13023-016-0502-3. Orphanet J Rare Dis. 2016. PMID: 27581084 Free PMC article.
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.
Huffnagel IC, van de Beek MC, Showers AL, Orsini JJ, Klouwer FCC, Dijkstra IME, Schielen PC, van Lenthe H, Wanders RJA, Vaz FM, Morrissey MA, Engelen M, Kemp S. Huffnagel IC, et al. Among authors: engelen m. Mol Genet Metab. 2017 Dec;122(4):209-215. doi: 10.1016/j.ymgme.2017.10.012. Epub 2017 Oct 28. Mol Genet Metab. 2017. PMID: 29089175
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.
Zeynelabidin S, Klouwer FCC, Meijers JCM, Suijker MH, Engelen M, Poll-The BT, van Ommen CH. Zeynelabidin S, et al. Among authors: engelen m. J Inherit Metab Dis. 2018 Mar;41(2):249-255. doi: 10.1007/s10545-017-0113-8. Epub 2017 Nov 14. J Inherit Metab Dis. 2018. PMID: 29139025 Free PMC article.
394 results