Walterfang M - Search Results

1

Niemann-Pick disease type C symptomatology: an expert-based clinical description.

Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, Kolb SA. Mengel E, et al. Among authors: walterfang m. Orphanet J Rare Dis. 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166. Orphanet J Rare Dis. 2013. PMID: 24135395 Free PMC article. Review.

2

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study.

Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke GC, Marquardt T, Luzy C, Giorgino R, Patterson MC. Pineda M, et al. Among authors: walterfang m. Mol Genet Metab. 2009 Nov;98(3):243-9. doi: 10.1016/j.ymgme.2009.07.003. Epub 2009 Aug 4. Mol Genet Metab. 2009. PMID: 19656703

3

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA. Wijburg FA, et al. Among authors: walterfang m. Neurology. 2012 May 15;78(20):1560-7. doi: 10.1212/WNL.0b013e3182563b82. Epub 2012 Apr 18. Neurology. 2012. PMID: 22517094

4

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group. Patterson MC, et al. Among authors: walterfang m. Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8. Mol Genet Metab. 2012. PMID: 22572546

5

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.

Walterfang M, Chien YH, Imrie J, Rushton D, Schubiger D, Patterson MC. Walterfang M, et al. Orphanet J Rare Dis. 2012 Oct 6;7:76. doi: 10.1186/1750-1172-7-76. Orphanet J Rare Dis. 2012. PMID: 23039766 Free PMC article. Review.

6

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

Wraith JE, Sedel F, Pineda M, Wijburg FA, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Chadha-Boreham H, Kolb SA. Wraith JE, et al. Among authors: walterfang m. J Inherit Metab Dis. 2014 Jan;37(1):93-101. doi: 10.1007/s10545-013-9626-y. Epub 2013 Jun 21. J Inherit Metab Dis. 2014. PMID: 23793527 Free PMC article.

7

Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.

Bonnot O, Klünemann HH, Sedel F, Tordjman S, Cohen D, Walterfang M. Bonnot O, et al. Among authors: walterfang m. Orphanet J Rare Dis. 2014 Apr 28;9:65. doi: 10.1186/1750-1172-9-65. Orphanet J Rare Dis. 2014. PMID: 24775716 Free PMC article. Review.

8

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat.

Abel LA, Walterfang M, Stainer MJ, Bowman EA, Velakoulis D. Abel LA, et al. Among authors: walterfang m. Orphanet J Rare Dis. 2015 Dec 21;10:160. doi: 10.1186/s13023-015-0377-8. Orphanet J Rare Dis. 2015. PMID: 26691656 Free PMC article.

9

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.

Mengel E, Pineda M, Hendriksz CJ, Walterfang M, Torres JV, Kolb SA. Mengel E, et al. Among authors: walterfang m. Mol Genet Metab. 2017 Mar;120(3):180-189. doi: 10.1016/j.ymgme.2016.12.003. Epub 2016 Dec 7. Mol Genet Metab. 2017. PMID: 27993458 Free article.

10

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA. Hendriksz CJ, et al. Among authors: walterfang m. Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Curr Med Res Opin. 2017. PMID: 28276873 Free article. Review.

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