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Table representation of search results timeline featuring number of search results per year.

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 5
1993 3
1994 1
1995 1
1996 2
1997 3
1998 4
1999 7
2001 4
2002 1
2003 1
2004 3
2005 3
2006 3
2007 8
2008 9
2009 2
2010 9
2011 4
2012 6
2013 3
2014 2
2015 3
2022 0
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Article attribute
Article type
Publication date

Search Results

106 results
Results by year
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Page 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.
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.
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.
[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.
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ. Hollak CE, et al. Among authors: poorthuis bj. Mol Genet Metab. 2012 Nov;107(3):526-33. doi: 10.1016/j.ymgme.2012.06.015. Epub 2012 Jun 30. Mol Genet Metab. 2012. PMID: 22818240
Elevated globotriaosylsphingosine is a hallmark of Fabry disease.
Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ. Aerts JM, et al. Among authors: poorthuis bj. Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2812-7. doi: 10.1073/pnas.0712309105. Epub 2008 Feb 19. Proc Natl Acad Sci U S A. 2008. PMID: 18287059 Free PMC article.
106 results