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Page 1
Pompe disease diagnosis and management guideline.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Kishnani PS, et al. Among authors: marsden d. Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3. Genet Med. 2006. PMID: 16702877 Free PMC article. No abstract available.
Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
Peake RW, Marsden DL, Bodamer OA, Gelb MH, Millington DS, Wijburg F. Peake RW, et al. Clin Chem. 2016 Nov;62(11):1430-1438. doi: 10.1373/clinchem.2016.258459. Epub 2016 Sep 14. Clin Chem. 2016. PMID: 27630153 Free PMC article. No abstract available.
Newborn screening of lysosomal storage disorders.
Marsden D, Levy H. Marsden D, et al. Clin Chem. 2010 Jul;56(7):1071-9. doi: 10.1373/clinchem.2009.141622. Epub 2010 May 20. Clin Chem. 2010. PMID: 20489136 Review.
Newborn screening for metabolic disorders.
Marsden D, Larson C, Levy HL. Marsden D, et al. J Pediatr. 2006 May;148(5):577-584. doi: 10.1016/j.jpeds.2005.12.021. J Pediatr. 2006. PMID: 16737864 Review. No abstract available.
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, Marsden D. Waisbren SE, et al. Among authors: marsden d. Mol Genet Metab. 2008 Sep-Oct;95(1-2):39-45. doi: 10.1016/j.ymgme.2008.06.002. Epub 2008 Aug 3. Mol Genet Metab. 2008. PMID: 18676165 Free PMC article.
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.
Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. Wang RY, et al. Among authors: marsden d. Mol Genet Metab. 2020 Mar;129(3):219-227. doi: 10.1016/j.ymgme.2020.01.003. Epub 2020 Jan 11. Mol Genet Metab. 2020. PMID: 32063397 Free article. Clinical Trial.
Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227].
Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. Wang RY, et al. Among authors: marsden d. Mol Genet Metab. 2020 Sep-Oct;131(1-2):285. doi: 10.1016/j.ymgme.2020.08.001. Epub 2020 Aug 23. Mol Genet Metab. 2020. PMID: 32843286 No abstract available.
243 results