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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: schielen pc. 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
Zoltan Lukacs Passed Away.
Orsini J, Gelb M, Schielen PCJI. Orsini J, et al. Int J Neonatal Screen. 2020 Nov 3;6(4):86. doi: 10.3390/ijns6040086. Int J Neonatal Screen. 2020. PMID: 33153081 Free PMC article.
Neonatal carnitine concentrations in relation to gestational age and weight.
Crefcoeur LL, de Sain-van der Velden MGM, Ferdinandusse S, Langeveld M, Maase R, Vaz FM, Visser G, Wanders RJA, Wijburg FA, Verschoof-Puite RK, Schielen PCJI. Crefcoeur LL, et al. JIMD Rep. 2020 Sep 8;56(1):95-104. doi: 10.1002/jmd2.12162. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204600 Free PMC article.
103 results