Literature DB >> 1301192

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

T Takahashi1, R J Desnick, G Takada, E H Schuchman.   

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Year:  1992        PMID： 1301192     DOI： 10.1002/humu.1380010111

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  7 in total

1.  The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.

Authors:  Calogera M Simonaro; Robert J Desnick; Margaret M McGovern; Melissa P Wasserstein; Edward H Schuchman
Journal:  Am J Hum Genet       Date:  2002-10-04       Impact factor: 11.025

2.  Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries.

Authors:  H Ishii; T Takahashi; M Toyono; M Tamura; K Harada; M Yoshida; Y Nishikawa; K Enomoto; G Takada
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

3.  Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.

Authors:  Iwan Jones; Xingxuan He; Fourogh Katouzian; Peter I Darroch; Edward H Schuchman
Journal:  Mol Genet Metab       Date:  2008-09-23       Impact factor: 4.797

4.  Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.

Authors:  M T Vanier; K Ferlinz; R Rousson; S Duthel; P Louisot; K Sandhoff; K Suzuki
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

5.  A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.

Authors:  W Sperl; G Bart; M T Vanier; H Christomanou; I Baldissera; E Steichen-Gersdorf; E Paschke
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

6.  Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease.

Authors:  K Ferlinz; R Hurwitz; M Weiler; K Suzuki; K Sandhoff; M T Vanier
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

7.  Functional implications of novel human acid sphingomyelinase splice variants.

Authors:  Cosima Rhein; Philipp Tripal; Angela Seebahn; Alice Konrad; Marcel Kramer; Christine Nagel; Jonas Kemper; Jens Bode; Christiane Mühle; Erich Gulbins; Martin Reichel; Cord-Michael Becker; Johannes Kornhuber
Journal:  PLoS One       Date:  2012-04-27       Impact factor: 3.240
  7 in total

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