Literature DB >> 10070623

An adult with a non-neuronopathic form of Niemann-Pick C disease.

A H Fensom1, A R Grant, S J Steinberg, C P Ward, B D Lake, E C Logan, G Hulman.   

Abstract

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Year:  1999        PMID： 10070623     DOI： 10.1023/a:1005463718823

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing.

Authors:  M T Vanier; C Rodriguez-Lafrasse; R Rousson; N Gazzah; M C Juge; P G Pentchev; A Revol; P Louisot
Journal:  Biochim Biophys Acta       Date:  1991-06-05

Review 2.  Type C Niemann-Pick disease: biochemical aspects and phenotypic heterogeneity.

Authors:  M T Vanier; C Rodriguez-Lafrasse; R Rousson; S Duthel; K Harzer; P G Pentchev; A Revol; P Louisot
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

3.  Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

Authors:  E D Carstea; J A Morris; K G Coleman; S K Loftus; D Zhang; C Cummings; J Gu; M A Rosenfeld; W J Pavan; D B Krizman; J Nagle; M H Polymeropoulos; S L Sturley; Y A Ioannou; M E Higgins; M Comly; A Cooney; A Brown; C R Kaneski; E J Blanchette-Mackie; N K Dwyer; E B Neufeld; T Y Chang; L Liscum; J F Strauss; K Ohno; M Zeigler; R Carmi; J Sokol; D Markie; R R O'Neill; O P van Diggelen; M Elleder; M C Patterson; R O Brady; M T Vanier; P G Pentchev; D A Tagle
Journal:  Science       Date:  1997-07-11       Impact factor: 47.728

4.  Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

Authors:  S J Steinberg; C P Ward; A H Fensom
Journal:  J Med Genet       Date:  1994-04       Impact factor: 6.318

Review 5.  Recent advances in elucidating Niemann-Pick C disease.

Authors:  M T Vanier; K Suzuki
Journal:  Brain Pathol       Date:  1998-01       Impact factor: 6.508

6.  Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

Authors:  M T Vanier; S Duthel; C Rodriguez-Lafrasse; P Pentchev; E D Carstea
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

Review 7.  Niemann-Pick disease type C: an update.

Authors:  M T Vanier; P Pentchev; C Rodriguez-Lafrasse; R Rousson
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  7 in total
  7 in total

1.  Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Authors:  G Millat; C Marçais; C Tomasetto; K Chikh; A H Fensom; K Harzer; D A Wenger; K Ohno; M T Vanier
Journal:  Am J Hum Genet       Date:  2001-05-01       Impact factor: 11.025

2.  Niemann-Pick disease type C in adults.

Authors:  J Imrie; S Vijayaraghaven; C Whitehouse; S Harris; L Heptinstall; H Church; A Cooper; G T N Besley; J E Wraith
Journal:  J Inherit Metab Dis       Date:  2002-10       Impact factor: 4.982

3.  Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C.

Authors:  J Imrie; J E Wraith
Journal:  Arch Dis Child       Date:  2001-05       Impact factor: 3.791

4.  Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

Authors:  G Millat; C Marçais; M A Rafi; T Yamamoto; J A Morris; P G Pentchev; K Ohno; D A Wenger; M T Vanier
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

5.  [Niemann-Pick disease type C--a neurometabolic disease through disturbed intracellular lipid transport].

Authors:  A J Grau; M Weisbrod; E Hund; K Harzer
Journal:  Nervenarzt       Date:  2003-10       Impact factor: 1.214

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.  High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Authors:  Christopher A Wassif; Joanna L Cross; James Iben; Luis Sanchez-Pulido; Antony Cougnoux; Frances M Platt; Daniel S Ory; Chris P Ponting; Joan E Bailey-Wilson; Leslie G Biesecker; Forbes D Porter
Journal:  Genet Med       Date:  2015-03-12       Impact factor: 8.822
  7 in total

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