Sillence D - Search Results

1

Intellectual functioning in alpha-mannosidosis.

Cathey SS, Sarasua SM, Simensen R, Pietris K, Kimbrell G, Sillence D, Wilson C, Horowitz L. Cathey SS, et al. Among authors: sillence d. JIMD Rep. 2019 Sep 21;50(1):44-49. doi: 10.1002/jmd2.12073. eCollection 2019 Nov. JIMD Rep. 2019. PMID: 31741826 Free PMC article.

2

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS. Leroy JG, et al. Among authors: sillence d. Eur J Hum Genet. 2014 May;22(5):594-601. doi: 10.1038/ejhg.2013.207. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045841 Free PMC article.

3

The natural history and osteodystrophy of mucolipidosis types II and III.

David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. David-Vizcarra G, et al. Among authors: sillence d. J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29. J Paediatr Child Health. 2010. PMID: 20367762 Free PMC article.

4

Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI.

Sillence D, Waters K, Donaldson S, Shaw PJ, Ellaway C. Sillence D, et al. JIMD Rep. 2012;2:103-6. doi: 10.1007/8904_2011_56. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430861 Free PMC article.

5

Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease.

Cheung R, Sillence DO, Tchan MC. Cheung R, et al. Among authors: sillence do. JIMD Rep. 2012;6:101-5. doi: 10.1007/8904_2011_123. Epub 2012 Feb 1. JIMD Rep. 2012. PMID: 23430946 Free PMC article.

6

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase.

Tchan MC, Devine KT, Sillence DO. Tchan MC, et al. JIMD Rep. 2011;1:57-64. doi: 10.1007/8904_2011_17. Epub 2011 Jun 22. JIMD Rep. 2011. PMID: 23430829 Free PMC article.

7

Cognitive and psychological functioning in Fabry disease.

Sigmundsdottir L, Tchan MC, Knopman AA, Menzies GC, Batchelor J, Sillence DO. Sigmundsdottir L, et al. Arch Clin Neuropsychol. 2014 Nov;29(7):642-50. doi: 10.1093/arclin/acu047. Arch Clin Neuropsychol. 2014. PMID: 25319043 Free PMC article.

8

Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience.

Ghali J, Nicholls K, Denaro C, Sillence D, Chapman I, Goldblatt J, Thomas M, Fletcher J; Australian State Fabry Disease Treatment Centres. Ghali J, et al. Among authors: sillence d. JIMD Rep. 2012;3:33-43. doi: 10.1007/8904_2011_44. Epub 2011 Sep 15. JIMD Rep. 2012. PMID: 23430871 Free PMC article.

9

Czech dysplasia metatarsal type: another type II collagen disorder.

Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Hoornaert KP, et al. Among authors: sillence d. Eur J Hum Genet. 2007 Dec;15(12):1269-75. doi: 10.1038/sj.ejhg.5201913. Epub 2007 Aug 29. Eur J Hum Genet. 2007. PMID: 17726487

10

Neonatal severe hyperparathyroidism: an important clue to the aetiology.

Gabbett MT, Jones K, Cowell CT, Sillence DO, Wilson MJ. Gabbett MT, et al. J Paediatr Child Health. 2006 Dec;42(12):813-6. doi: 10.1111/j.1440-1754.2006.00983.x. J Paediatr Child Health. 2006. PMID: 17096719

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