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143 results

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Page 1
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.
Brands MM, Güngör D, van den Hout JM, Karstens FP, Oussoren E, Plug I, Boelens JJ, van Hasselt PM, Hollak CE, Mulder MF, Rubio Gozalbo E, Smeitink JA, Smit GP, Wijburg FA, Meutgeert H, van der Ploeg AT. Brands MM, et al. Among authors: smit gp. J Inherit Metab Dis. 2015 Mar;38(2):323-31. doi: 10.1007/s10545-014-9737-0. Epub 2014 Jul 22. J Inherit Metab Dis. 2015. PMID: 25048386
Abnormal glutathione conjugation in patients with tyrosinaemia type I.
Mulders TM, Bergman DJ, Poll-The BT, Smit GP, Breimer DD, Mulder GJ, Duran M, Smeitink JA. Mulders TM, et al. Among authors: smit gp. J Inherit Metab Dis. 1997 Aug;20(4):473-85. doi: 10.1023/a:1005385009831. J Inherit Metab Dis. 1997. PMID: 9266383
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.
Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doorn PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT. Winkel LP, et al. Among authors: smit gp. Ann Neurol. 2004 Apr;55(4):495-502. doi: 10.1002/ana.20019. Ann Neurol. 2004. PMID: 15048888
Liver transplantation in tyrosinaemia type I: the Groningen experience.
Wijburg FA, Reitsma WC, Slooff MJ, van Spronsen FJ, Koetse HA, Reijngoud DJ, Smit GP, Berger R, Bijleveld CM. Wijburg FA, et al. Among authors: smit gp. J Inherit Metab Dis. 1995;18(2):115-8. doi: 10.1007/BF00711743. J Inherit Metab Dis. 1995. PMID: 7564223 No abstract available.
Clinical pathways for inborn errors of metabolism: warranted and feasible.
Demirdas S, van Kessel IN, Korndewal MJ, Hollak CE, Meutgeert H, Klaren A, van Rijn M, van Spronsen FJ, Bosch AM; Dutch working Group. Demirdas S, et al. Orphanet J Rare Dis. 2013 Feb 25;8:37. doi: 10.1186/1750-1172-8-37. Orphanet J Rare Dis. 2013. PMID: 23442887 Free PMC article.
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing.
Sollie A, Sijmons RH, Lindhout D, van der Ploeg AT, Rubio Gozalbo ME, Smit GP, Verheijen F, Waterham HR, van Weely S, Wijburg FA, Wijburg R, Visser G. Sollie A, et al. Among authors: smit gp. Hum Mutat. 2013 Jul;34(7):967-73. doi: 10.1002/humu.22316. Epub 2013 Jun 3. Hum Mutat. 2013. PMID: 23504699
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Touw CM, Smit GP, de Vries M, de Klerk JB, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJ, Waterham HR, Reijngoud DJ, Derks TG. Touw CM, et al. Among authors: smit gp. Orphanet J Rare Dis. 2012 May 25;7:30. doi: 10.1186/1750-1172-7-30. Orphanet J Rare Dis. 2012. PMID: 22630369 Free PMC article.
143 results