Pineda M - Search Results

1

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: pineda 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.

2

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: pineda 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.

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: pineda m. Neurology. 2012 May 15;78(20):1560-7. doi: 10.1212/WNL.0b013e3182563b82. Epub 2012 Apr 18. Neurology. 2012. PMID: 22517094

4

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.

Pineda M, Juríčková K, Karimzadeh P, Kolniková M, Malinová V, Torres J, Kolb SA. Pineda M, et al. Orphanet J Rare Dis. 2019 Jul 2;14(1):161. doi: 10.1186/s13023-019-1124-3. Orphanet J Rare Dis. 2019. PMID: 31266511 Free PMC article.

5

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).

Pineda M, Mengel E, Jahnová H, Héron B, Imrie J, Lourenço CM, van der Linden V, Karimzadeh P, Valayannopoulos V, Jesina P, Torres JV, Kolb SA. Pineda M, et al. BMC Pediatr. 2016 Jul 22;16:107. doi: 10.1186/s12887-016-0641-7. BMC Pediatr. 2016. PMID: 27449637 Free PMC article.

6

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. 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

7

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review.

Pineda M, Juríčková K, Karimzadeh P, Kolnikova M, Malinova V, Insua JL, Velten C, Kolb SA. Pineda M, et al. Orphanet J Rare Dis. 2019 Jan 8;14(1):32. doi: 10.1186/s13023-019-0996-6. Orphanet J Rare Dis. 2019. PMID: 30732631 Free PMC article.

8

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.

Patterson MC, Mengel E, Vanier MT, Moneuse P, Rosenberg D, Pineda M. Patterson MC, et al. Among authors: pineda m. Orphanet J Rare Dis. 2020 Apr 25;15(1):104. doi: 10.1186/s13023-020-01363-2. Orphanet J Rare Dis. 2020. PMID: 32334605 Free PMC article.

9

International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.

Evans W, Patterson M, Platt F, Guldberg C, Mathieson T, Pacey J; Core Working Group for the Delphi Study. Evans W, et al. Orphanet J Rare Dis. 2021 Nov 18;16(1):482. doi: 10.1186/s13023-021-02115-6. Orphanet J Rare Dis. 2021. PMID: 34794481 Free PMC article.

10

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.

Iturriaga C, Pineda M, Fernández-Valero EM, Vanier MT, Coll MJ. Iturriaga C, et al. Among authors: pineda m. J Neurol Sci. 2006 Nov 1;249(1):1-6. doi: 10.1016/j.jns.2006.05.054. Epub 2006 Jun 30. J Neurol Sci. 2006. PMID: 16814322

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