Literature DB >> 16844962

Niemann-Pick type C disease in a 68-year-old patient.

G Trendelenburg, M T Vanier, S Maza, G Millat, G Bohner, D L Munz, R Zschenderlein.   

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Year:  2006        PMID： 16844962      PMCID： PMC2077625          DOI： 10.1136/jnnp.2005.086785

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  4 in total

Review 1.  Substrate reduction therapy for lysosomal storage diseases.

Authors:  T M Cox
Journal:  Acta Paediatr Suppl       Date:  2005-03

Review 2.  Niemann-Pick disease type C.

Authors:  M T Vanier; G Millat
Journal:  Clin Genet       Date:  2003-10       Impact factor: 4.438

3.  Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.

Authors:  Robin H Lachmann; Danielle te Vruchte; Emyr Lloyd-Evans; Gabriele Reinkensmeier; Daniel J Sillence; Luisa Fernandez-Guillen; Raymond A Dwek; Terry D Butters; Timothy M Cox; Frances M Platt
Journal:  Neurobiol Dis       Date:  2004-08       Impact factor: 5.996

Review 4.  A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.

Authors:  Marc C Patterson
Journal:  Neurologist       Date:  2003-11       Impact factor: 1.398
  4 in total
  14 in total

1.  Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables.

Authors:  M Walterfang; M Fahey; L Abel; M Fietz; A Wood; E Bowman; D Reutens; D Velakoulis
Journal:  AJNR Am J Neuroradiol       Date:  2011-05-19       Impact factor: 3.825

2.  The natural history of Niemann-Pick disease type C in the UK.

Authors:  J Imrie; S Dasgupta; G T N Besley; C Harris; L Heptinstall; S Knight; M T Vanier; A H Fensom; C Ward; E Jacklin; C Whitehouse; J E Wraith
Journal:  J Inherit Metab Dis       Date:  2006-12-11       Impact factor: 4.982

3.  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

Review 4.  Treatment of Niemann--pick type C disease by histone deacetylase inhibitors.

Authors:  Paul Helquist; Frederick R Maxfield; Norbert L Wiech; Olaf Wiest
Journal:  Neurotherapeutics       Date:  2013-10       Impact factor: 7.620

Review 5.  Niemann-Pick disease type C.

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

6.  Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

Authors:  Michael Zech; Georg Nübling; Florian Castrop; Angela Jochim; Eva C Schulte; Brit Mollenhauer; Peter Lichtner; Annette Peters; Christian Gieger; Thorsten Marquardt; Marie T Vanier; Philippe Latour; Hans Klünemann; Claudia Trenkwalder; Janine Diehl-Schmid; Robert Perneczky; Thomas Meitinger; Konrad Oexle; Bernhard Haslinger; Stefan Lorenzl; Juliane Winkelmann
Journal:  PLoS One       Date:  2013-12-30       Impact factor: 3.240

Review 7.  Psychiatric signs and symptoms in treatable inborn errors of metabolism.

Authors:  S Nia
Journal:  J Neurol       Date:  2014-09       Impact factor: 4.849

Review 8.  Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.

Authors:  William R H Evans; Chris J Hendriksz
Journal:  BJPsych Bull       Date:  2017-04

Review 9.  Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.

Authors:  Olivier Bonnot; Hans Hermann Klünemann; Frederic Sedel; Sylvie Tordjman; David Cohen; Mark Walterfang
Journal:  Orphanet J Rare Dis       Date:  2014-04-28       Impact factor: 4.123

10.  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
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