Verheijen FW - Search Results

1

Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.

Mancini GMS, Smits DJ, Dekker J, Schot R, de Wit MCY, Lequin MH, Dremmen M, Brooks AS, van Ham T, Verheijen FW, Fornerod M, Dobyns WB, Wilke M. Mancini GMS, et al. Among authors: verheijen fw. Eur J Paediatr Neurol. 2021 Nov;35:27-34. doi: 10.1016/j.ejpn.2021.09.006. Epub 2021 Sep 22. Eur J Paediatr Neurol. 2021. PMID: 34592643 Free article. Review.

2

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

Mancini GM, Hu P, Verheijen FW, van Diggelen OP, Janse HC, Kleijer WJ, Beemer FA, Jennekens FG. Mancini GM, et al. Among authors: verheijen fw. Eur J Pediatr. 1992 Aug;151(8):590-5. doi: 10.1007/BF01957729. Eur J Pediatr. 1992. PMID: 1505579

3

Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.

Mancini GM, Beerens CE, Galjaard H, Verheijen FW. Mancini GM, et al. Among authors: verheijen fw. Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6609-13. doi: 10.1073/pnas.89.14.6609. Proc Natl Acad Sci U S A. 1992. PMID: 1631163 Free PMC article.

4

Sialic acid storage disorders: observations on clinical and biochemical variation.

Mancini GM, Verheijen FW, Beerens CE, Renlund M, Aula P. Mancini GM, et al. Among authors: verheijen fw. Dev Neurosci. 1991;13(4-5):327-30. doi: 10.1159/000112181. Dev Neurosci. 1991. PMID: 1817039 Review.

5

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Mancini GM, Beerens CE, Aula PP, Verheijen FW. Mancini GM, et al. Among authors: verheijen fw. J Clin Invest. 1991 Apr;87(4):1329-35. doi: 10.1172/JCI115136. J Clin Invest. 1991. PMID: 2010546 Free PMC article.

6

Photoaffinity labeling of a bacterial sialidase with an aryl azide derivative of sialic acid.

van der Horst GT, Mancini GM, Brossmer R, Rose U, Verheijen FW. van der Horst GT, et al. Among authors: verheijen fw. J Biol Chem. 1990 Jul 5;265(19):10801-4. J Biol Chem. 1990. PMID: 2358439 Free article.

7

Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses.

Mancini GM, Beerens CE, Verheijen FW. Mancini GM, et al. Among authors: verheijen fw. J Biol Chem. 1990 Jul 25;265(21):12380-7. J Biol Chem. 1990. PMID: 2373697 Free article.

8

Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides.

Mancini GM, de Jonge HR, Galjaard H, Verheijen FW. Mancini GM, et al. Among authors: verheijen fw. J Biol Chem. 1989 Sep 15;264(26):15247-54. J Biol Chem. 1989. PMID: 2768261 Free article.

9

Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency.

Galjaard H, Willemsen R, Hoogeveen AT, Mancini GM, Palmeri S, Verheijen FW, D'Azzo A. Galjaard H, et al. Among authors: verheijen fw. Enzyme. 1987;38(1-4):132-43. doi: 10.1159/000469199. Enzyme. 1987. PMID: 3126043 Review.

10

Characterization of a heavy metal ion transporter in the lysosomal membrane.

Havelaar AC, de Gast IL, Snijders S, Beerens CE, Mancini GM, Verheijen FW. Havelaar AC, et al. Among authors: verheijen fw. FEBS Lett. 1998 Oct 2;436(2):223-7. doi: 10.1016/s0014-5793(98)01133-8. FEBS Lett. 1998. PMID: 9781683 Free article.

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