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208 results

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Page 1
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: mannens m. 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
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, Mannens MM, Aerts JM, Hollak CE. Vedder AC, et al. Among authors: mannens mm. J Inherit Metab Dis. 2007 Feb;30(1):68-78. doi: 10.1007/s10545-006-0484-8. Epub 2007 Jan 5. J Inherit Metab Dis. 2007. PMID: 17206462
A monozygotic twin pair with highly discordant Gaucher phenotypes.
Biegstraaten M, van Schaik IN, Aerts JM, Langeveld M, Mannens MM, Bour LJ, Sidransky E, Tayebi N, Fitzgibbon E, Hollak CE. Biegstraaten M, et al. Among authors: mannens mm. Blood Cells Mol Dis. 2011 Jan 15;46(1):39-41. doi: 10.1016/j.bcmd.2010.10.007. Epub 2010 Nov 5. Blood Cells Mol Dis. 2011. PMID: 21056933 Free PMC article.
Properdin deficiency: molecular basis and disease association.
Fijen CA, van den Bogaard R, Schipper M, Mannens M, Schlesinger M, Nordin FG, Dankert J, Daha MR, Sjöholm AG, Truedsson L, Kuijper EJ. Fijen CA, et al. Among authors: mannens m. Mol Immunol. 1999 Sep-Oct;36(13-14):863-7. doi: 10.1016/s0161-5890(99)00107-8. Mol Immunol. 1999. PMID: 10698340 Review. No abstract available.
The IGSF1 deficiency syndrome: characteristics of male and female patients.
Joustra SD, Schoenmakers N, Persani L, Campi I, Bonomi M, Radetti G, Beck-Peccoz P, Zhu H, Davis TM, Sun Y, Corssmit EP, Appelman-Dijkstra NM, Heinen CA, Pereira AM, Varewijck AJ, Janssen JA, Endert E, Hennekam RC, Lombardi MP, Mannens MM, Bak B, Bernard DJ, Breuning MH, Chatterjee K, Dattani MT, Oostdijk W, Biermasz NR, Wit JM, van Trotsenburg AS. Joustra SD, et al. Among authors: mannens mm. J Clin Endocrinol Metab. 2013 Dec;98(12):4942-52. doi: 10.1210/jc.2013-2743. Epub 2013 Oct 9. J Clin Endocrinol Metab. 2013. PMID: 24108313
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC. Postma AV, et al. Among authors: mannens mm. J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253444
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.
Christiaans I, Nannenberg EA, Dooijes D, Jongbloed RJ, Michels M, Postema PG, Majoor-Krakauer D, van den Wijngaard A, Mannens MM, van Tintelen JP, van Langen IM, Wilde AA. Christiaans I, et al. Among authors: mannens mm. Neth Heart J. 2010 May;18(5):248-54. doi: 10.1007/BF03091771. Neth Heart J. 2010. PMID: 20505798 Free PMC article.
208 results