van Spronsen FJ - Search Results

1

Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals.

Kuypers AM, Vliet KE, MacDonald A, Ahring K, Abeln D, Ford S, Hildebrandt-Karlsen S, van Spronsen FJ, Heiner-Fokkema MR. Kuypers AM, et al. Among authors: van spronsen fj. Mol Genet Metab. 2024 May;142(1):108361. doi: 10.1016/j.ymgme.2024.108361. Epub 2024 Feb 29. Mol Genet Metab. 2024. PMID: 38442492 Free article.

2

PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders.

van Spronsen FJ, Ahring KK, Gizewska M. van Spronsen FJ, et al. J Inherit Metab Dis. 2009 Feb;32(1):58-64. doi: 10.1007/s10545-008-0966-y. Epub 2009 Jan 13. J Inherit Metab Dis. 2009. PMID: 19191005

3

Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis.

Hoeksma M, Reijngoud DJ, Pruim J, de Valk HW, Paans AM, van Spronsen FJ. Hoeksma M, et al. Among authors: van spronsen fj. Mol Genet Metab. 2009 Apr;96(4):177-82. doi: 10.1016/j.ymgme.2008.12.019. Epub 2009 Feb 6. Mol Genet Metab. 2009. PMID: 19201235

4

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ. Blau N, et al. Among authors: van spronsen fj. Mol Genet Metab. 2009 Apr;96(4):158-63. doi: 10.1016/j.ymgme.2009.01.002. Epub 2009 Feb 8. Mol Genet Metab. 2009. PMID: 19208488 Review.

5

Management of phenylketonuria in Europe: survey results from 19 countries.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826

6

Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.

de Groot MJ, Hoeksma M, Blau N, Reijngoud DJ, van Spronsen FJ. de Groot MJ, et al. Among authors: van spronsen fj. Mol Genet Metab. 2010;99 Suppl 1:S86-9. doi: 10.1016/j.ymgme.2009.10.016. Mol Genet Metab. 2010. PMID: 20123477 Review.

7

Future treatment strategies in phenylketonuria.

van Spronsen FJ, Enns GM. van Spronsen FJ, et al. Mol Genet Metab. 2010;99 Suppl 1:S90-5. doi: 10.1016/j.ymgme.2009.10.008. Mol Genet Metab. 2010. PMID: 20123478 Review.

8

Phenylketonuria management from an European perspective: a commentary.

van Spronsen FJ. van Spronsen FJ. Mol Genet Metab. 2010 Jun;100(2):107-10. doi: 10.1016/j.ymgme.2010.03.003. Epub 2010 Mar 6. Mol Genet Metab. 2010. PMID: 20363168

9

Challenges and pitfalls in the management of phenylketonuria.

Feillet F, van Spronsen FJ, MacDonald A, Trefz FK, Demirkol M, Giovannini M, Bélanger-Quintana A, Blau N. Feillet F, et al. Among authors: van spronsen fj. Pediatrics. 2010 Aug;126(2):333-41. doi: 10.1542/peds.2009-3584. Epub 2010 Jul 12. Pediatrics. 2010. PMID: 20624808

10

Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages.

Vugteveen I, Hoeksma M, Monsen AL, Fokkema MR, Reijngoud DJ, van Rijn M, van Spronsen FJ. Vugteveen I, et al. Among authors: van rijn m, van spronsen fj. Mol Genet Metab. 2011 Jan;102(1):13-7. doi: 10.1016/j.ymgme.2010.07.004. Epub 2010 Oct 27. Mol Genet Metab. 2011. PMID: 21030277

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