Literature DB >> 27550898

Pearls & Oy-sters: Niemann-Pick disease type C in a 65-year-old patient.

Niraj Kumar1, Philippe Rizek1, Yahia Mohammad1, Mandar Jog2.   

Abstract

Entities:  

Mesh：

Year:  2016        PMID： 27550898      PMCID： PMC4999318          DOI： 10.1212/WNL.0000000000003011

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  10 in total

Review 1.  Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

Authors:  Ettore Salsano; Chizoba Umeh; Alessandra Rufa; Davide Pareyson; David S Zee
Journal:  Neurol Sci       Date:  2012-07-19       Impact factor: 3.307

Review 2.  Miglustat: a review of its use in Niemann-Pick disease type C.

Authors:  Katherine A Lyseng-Williamson
Journal:  Drugs       Date:  2014-01       Impact factor: 9.546

Review 3.  The adult form of Niemann-Pick disease type C.

Authors:  Mathieu Sévin; Gaëtan Lesca; Nicole Baumann; Gilles Millat; Olivier Lyon-Caen; Marie T Vanier; Frédéric Sedel
Journal:  Brain       Date:  2006-09-26       Impact factor: 13.501

4.  Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C.

Authors:  M Walterfang; M D Macfarlane; J C L Looi; L Abel; E Bowman; M C Fahey; P Desmond; D Velakoulis
Journal:  Eur J Neurol       Date:  2012-03       Impact factor: 6.089

5.  Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.

Authors:  M T Vanier; D A Wenger; M E Comly; R Rousson; R O Brady; P G Pentchev
Journal:  Clin Genet       Date:  1988-05       Impact factor: 4.438

Review 6.  Niemann-Pick disease type C.

Authors:  Marie T Vanier
Journal:  Orphanet J Rare Dis       Date:  2010-06-03       Impact factor: 4.123

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

Authors:  Marc C Patterson; Christian J Hendriksz; Mark Walterfang; Frederic Sedel; Marie T Vanier; Frits Wijburg
Journal:  Mol Genet Metab       Date:  2012-05-08       Impact factor: 4.797

8.  Disease and patient characteristics in NP-C patients: findings from an international disease registry.

Authors:  Marc C Patterson; Eugen Mengel; Frits A Wijburg; Audrey Muller; Barbara Schwierin; Harir Drevon; Marie T Vanier; Mercé Pineda
Journal:  Orphanet J Rare Dis       Date:  2013-01-16       Impact factor: 4.123

9.  A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient.

Authors:  C R Greenberg; J G Barnes; S Kogan; L E Seargeant
Journal:  Mol Genet Metab Rep       Date:  2015-03-06

10.  Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.

Authors:  Jackie Imrie; Lesley Heptinstall; Stephen Knight; Kate Strong
Journal:  BMC Neurol       Date:  2015-12-15       Impact factor: 2.474
  10 in total
  2 in total

1.  Very Late-Onset Niemann Pick Type C Disease: Example of Progressive Supranuclear Palsy Look-Alike Disorder.

Authors:  Nikola Kresojević; Gorana Mandić-Stojmenović; Valerija Dobričić; Igor Petrović; Leposava Brajković; Elka Stefanova; Marina Svetel; Vladimir Kostić
Journal:  Mov Disord Clin Pract       Date:  2020-01-22

2.  Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.

Authors:  Melanie Wu; Rita Ceponiene; Ece Bayram; Irene Litvan
Journal:  Mov Disord Clin Pract       Date:  2020-09-18
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.