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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: engelen m. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S. Engelen M, et al. Brain. 2014 Mar;137(Pt 3):693-706. doi: 10.1093/brain/awt361. Epub 2014 Jan 29. Brain. 2014. PMID: 24480483
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
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA. Garrelfs MR, et al. Among authors: engelen m. Pediatr Neurol. 2020 Dec;113:26-32. doi: 10.1016/j.pediatrneurol.2020.07.014. Epub 2020 Jul 28. Pediatr Neurol. 2020. PMID: 32980744 Free article.
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Welsink-Karssies MM, Schrantee A, Caan MWA, Hollak CEM, Janssen MCH, Oussoren E, de Vries MC, Roosendaal SD, Engelen M, Bosch AM. Welsink-Karssies MM, et al. Among authors: engelen m. Mol Genet Metab. 2020 Dec;131(4):370-379. doi: 10.1016/j.ymgme.2020.11.001. Epub 2020 Nov 6. Mol Genet Metab. 2020. PMID: 33199205 Free article.
399 results