Poorthuis BJ[au] - Search Results

Year	Number of Results
1976	3
1978	2
1980	3
1981	2
1982	1
1983	2
1984	1
1987	2
1988	5
1989	4
1990	2
1991	2
1992	3
1993	3
1994	1
1995	1
1996	2
1997	3
1998	4
1999	7
2001	4
2002	1
2003	1
2004	2
2005	3
2006	3
2007	8
2008	8
2009	2
2010	9
2011	4
2012	6
2013	3
2014	2
2015	3
2022	0

1

Sanfilippo syndrome: a mini-review.

Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Valstar MJ, et al. Among authors: poorthuis bj. J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392742 Review.

2

Mannose phosphorylation in health and disease.

Kollmann K, Pohl S, Marschner K, Encarnação M, Sakwa I, Tiede S, Poorthuis BJ, Lübke T, Müller-Loennies S, Storch S, Braulke T. Kollmann K, et al. Among authors: poorthuis bj. Eur J Cell Biol. 2010 Jan;89(1):117-23. doi: 10.1016/j.ejcb.2009.10.008. Epub 2009 Nov 28. Eur J Cell Biol. 2010. PMID: 19945768 Review.

3

Conversion of diphosphatidylglycerol to bis(monoacylglyceryl)phosphate by lysosomes.

Poorthuis BJ, Hostetler KY. Poorthuis BJ, et al. J Lipid Res. 1978 Mar;19(3):309-15. J Lipid Res. 1978. PMID: 650089 Free article.

4

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

Aerts JM, Kallemeijn WW, Wegdam W, Joao Ferraz M, van Breemen MJ, Dekker N, Kramer G, Poorthuis BJ, Groener JE, Cox-Brinkman J, Rombach SM, Hollak CE, Linthorst GE, Witte MD, Gold H, van der Marel GA, Overkleeft HS, Boot RG. Aerts JM, et al. Among authors: poorthuis bj. J Inherit Metab Dis. 2011 Jun;34(3):605-19. doi: 10.1007/s10545-011-9308-6. Epub 2011 Mar 29. J Inherit Metab Dis. 2011. PMID: 21445610 Free PMC article. Review.

5

Screening for Fabry disease in high-risk populations: a systematic review.

Linthorst GE, Bouwman MG, Wijburg FA, Aerts JM, Poorthuis BJ, Hollak CE. Linthorst GE, et al. Among authors: poorthuis bj. J Med Genet. 2010 Apr;47(4):217-22. doi: 10.1136/jmg.2009.072116. Epub 2009 Sep 24. J Med Genet. 2010. PMID: 19797197 Review.

6

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, Hollak CE. van der Tol L, et al. Among authors: poorthuis bj. J Med Genet. 2014 Jan;51(1):1-9. doi: 10.1136/jmedgenet-2013-101857. Epub 2013 Aug 6. J Med Genet. 2014. PMID: 23922385 Review.

7

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ. Smid BE, et al. Among authors: poorthuis bj. J Med Genet. 2015 Apr;52(4):262-8. doi: 10.1136/jmedgenet-2014-102872. Epub 2015 Jan 16. J Med Genet. 2015. PMID: 25596309

8

[From gene to disease; Gaucher disease].

Hollak CE, Boot RG, Poorthuis BJ, Aerts JM. Hollak CE, et al. Among authors: poorthuis bj. Ned Tijdschr Geneeskd. 2005 Sep 24;149(39):2163-6. Ned Tijdschr Geneeskd. 2005. PMID: 16223076 Review. Dutch.

9

Secretory phospholipase A(2) in newborn infants with sepsis.

Schrama AJ, de Beaufort AJ, Poorthuis BJ, Berger HM, Walther FJ. Schrama AJ, et al. Among authors: poorthuis bj. J Perinatol. 2008 Apr;28(4):291-6. doi: 10.1038/sj.jp.7211929. Epub 2008 Jan 17. J Perinatol. 2008. PMID: 18200020 Clinical Trial.

10

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA. Valstar MJ, et al. Among authors: poorthuis bj. Ann Neurol. 2010 Dec;68(6):876-87. doi: 10.1002/ana.22092. Ann Neurol. 2010. PMID: 21061399

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

Search Page

Search Results