Literature DB >> 7787722

Niemann-Pick disease type C: nodular splenomegaly.

L P Omarini1, S E Frank-Burkhardt, T A Seemayer, G Mentha, F Terrier.   

Abstract

Niemann-Pick type C disease (NPCD) is an autosomal recessive storage lipidosis due to a disorder of cholesterol esterification leading to the accumulation of sphingomyelin and cholesterol in the brain, liver, and spleen. The disease is usually diagnosed when neurological symptoms appear. We report an unusual presentation of NPCD in a young asymptomatic adult with isolated nodular splenomegaly.

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Year:  1995        PMID： 7787722     DOI： 10.1007/bf00201528

Source DB:  PubMed          Journal:  Abdom Imaging        ISSN： 0942-8925


  6 in total

1.  Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk.

Authors:  M T Vanier; C Rodriguez-Lafrasse; R Rousson; G Mandon; J Boué; A Choiset; M F Peyrat; C Dumontel; M C Juge; P G Pentchev
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

Review 2.  Clinical aspects of Niemann-Pick type C disease in the adult.

Authors:  J C Turpin; M Masson; N Baumann
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

Review 3.  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

4.  [Ultrasound echogenic splenic tumors: nodular manifestation of type C Niemann-Pick disease].

Authors:  E Fröhlich; K Harzer; T Heller; U Rühl
Journal:  Ultraschall Med       Date:  1990-06       Impact factor: 6.548

5.  Niemann-Pick type-C disease: deficient intracellular transport of exogenously derived cholesterol.

Authors:  C F Roff; E Goldin; M E Comly; J Blanchette-Mackie; A Cooney; R O Brady; P G Pentchev
Journal:  Am J Med Genet       Date:  1992-02-15

Review 6.  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
  6 in total
  6 in total

1.  Niemann-Pick disease type C: analysis of 7 patients.

Authors:  Hui Xiong; Xin-Hua Bao; Yue-Hua Zhang; You-Ning Xu; Jiong Qin; Hui-Ping Shi; Xi-Ru Wu
Journal:  World J Pediatr       Date:  2011-06-01       Impact factor: 2.764

Review 2.  Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.

Authors:  Felipe Mussi von Ranke; Heloisa Maria Pereira Freitas; Alexandre Dias Mançano; Rosana Souza Rodrigues; Bruno Hochhegger; Dante Escuissato; Cesar Augusto Araujo Neto; Thiago Krieger Bento da Silva; Edson Marchiori
Journal:  Lung       Date:  2016-05-10       Impact factor: 2.584

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.  Spectrum of phenotypic variability in Niemann-Pick type C disease: A cause of delayed diagnosis.

Authors:  C Prasad; C Pushpanathan; R Morris; A Davis; F Dougherty
Journal:  Paediatr Child Health       Date:  1998-09       Impact factor: 2.253

5.  Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann-Pick disease: an atypical hemangioma enhancement pattern.

Authors:  E Benedetti; A Proietti; P Miccoli; F Basolo; E Ciancia; P A Erba; S Galimberti; E Orsitto; M Petrini
Journal:  J Ultrasound       Date:  2009-07-09

6.  Niemann-Pick disease type B: HRCT assessment of pulmonary involvement.

Authors:  Heloisa Maria Pereira Freitas; Alexandre Dias Mançano; Rosana Souza Rodrigues; Bruno Hochhegger; Pedro Paulo Teixeira E Silva Torres; Dante Escuissato; Cesar Augusto Araujo Neto; Edson Marchiori
Journal:  J Bras Pneumol       Date:  2017 Nov-Dec       Impact factor: 2.624
  6 in total

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