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Rhizomelic chondrodysplasia punctata and cardiac pathology.
Huffnagel IC, Clur SA, Bams-Mengerink AM, Blom NA, Wanders RJ, Waterham HR, Poll-The BT. Huffnagel IC, et al. J Med Genet. 2013 Jul;50(7):419-24. doi: 10.1136/jmedgenet-2013-101536. Epub 2013 Apr 9. J Med Genet. 2013. PMID: 23572185
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: huffnagel ic. Neuropediatrics. 2016 Aug;47(4):205-20. doi: 10.1055/s-0036-1582140. Epub 2016 Apr 18. Neuropediatrics. 2016. PMID: 27089543 Review.
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. 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
Disease progression in women with X-linked adrenoleukodystrophy is slow.
Huffnagel IC, Dijkgraaf MGW, Janssens GE, van Weeghel M, van Geel BM, Poll-The BT, Kemp S, Engelen M. Huffnagel IC, et al. Orphanet J Rare Dis. 2019 Feb 7;14(1):30. doi: 10.1186/s13023-019-1008-6. Orphanet J Rare Dis. 2019. PMID: 30732635 Free PMC article.
22 results