Literature DB >> 7405586

Niemann-Pick type C disease and early cholestasis in three brothers.

J Jaeken, W Proesmans, E Eggermont, F Van Hoof, W Den Tandt, L Standaert, G Van Herck, L Corbeel.   

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Year:  1980        PMID： 7405586

Source DB:  PubMed          Journal:  Acta Paediatr Belg        ISSN： 0001-6535


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  4 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-like liver disease and reduced cholesterol esterification in fibroblasts of two male infants.

Authors:  K Kristjansson; M J Finegold; P G Pentchev; J W Belmont
Journal:  Eur J Pediatr       Date:  1994-05       Impact factor: 3.183

3.  Fetal Niemann-Pick disease type C: ultrastructural and lipid findings in liver and spleen.

Authors:  C Dumontel; C Girod; F Dijoud; Y Dumez; M T Vanier
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1993

Review 4.  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
  4 in total

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