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Page 1
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Touw CM, Smit GP, de Vries M, de Klerk JB, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJ, Waterham HR, Reijngoud DJ, Derks TG. Touw CM, et al. Among authors: visser g. Orphanet J Rare Dis. 2012 May 25;7:30. doi: 10.1186/1750-1172-7-30. Orphanet J Rare Dis. 2012. PMID: 22630369 Free PMC article.
Differences between acylcarnitine profiles in plasma and bloodspots.
de Sain-van der Velden MG, Diekman EF, Jans JJ, van der Ham M, Prinsen BH, Visser G, Verhoeven-Duif NM. de Sain-van der Velden MG, et al. Among authors: visser g. Mol Genet Metab. 2013 Sep-Oct;110(1-2):116-21. doi: 10.1016/j.ymgme.2013.04.008. Epub 2013 Apr 13. Mol Genet Metab. 2013. PMID: 23639448
PIGO deficiency: palmoplantar keratoderma and novel mutations.
Morren MA, Jaeken J, Visser G, Salles I, Van Geet C; NIHR BioResource; Simeoni I, Turro E, Freson K. Morren MA, et al. Among authors: visser g. Orphanet J Rare Dis. 2017 May 25;12(1):101. doi: 10.1186/s13023-017-0654-9. Orphanet J Rare Dis. 2017. PMID: 28545593 Free PMC article. Review.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G. Bleeker JC, et al. Among authors: visser g. J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30761551
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ. Jager EA, et al. Among authors: visser g. J Inherit Metab Dis. 2019 Sep;42(5):890-897. doi: 10.1002/jimd.12102. Epub 2019 May 16. J Inherit Metab Dis. 2019. PMID: 31012112
The natural history of classic galactosemia: lessons from the GalNet registry.
Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT. Rubio-Gozalbo ME, et al. Among authors: visser g. Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z. Orphanet J Rare Dis. 2019. PMID: 31029175 Free PMC article.
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC, Visser G, Clarke K, Ferdinandusse S, de Haan FH, Houtkooper RH, IJlst L, Kok IL, Langeveld M, van der Pol WL, de Sain-van der Velden MGM, Sibeijn-Kuiper A, Takken T, Wanders RJA, van Weeghel M, Wijburg FA, van der Woude LH, Wüst RCI, Cox PJ, Jeneson JAL. Bleeker JC, et al. Among authors: visser g. J Inherit Metab Dis. 2020 Jul;43(4):787-799. doi: 10.1002/jimd.12217. Epub 2020 Feb 5. J Inherit Metab Dis. 2020. PMID: 31955429 Free PMC article. Clinical Trial.
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Knottnerus SJG, Pras-Raves ML, van der Ham M, Ferdinandusse S, Houtkooper RH, Schielen PCJI, Visser G, Wijburg FA, de Sain-van der Velden MGM. Knottnerus SJG, et al. Among authors: visser g. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165725. doi: 10.1016/j.bbadis.2020.165725. Epub 2020 Feb 19. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32061778 Free article.
1,005 results