Literature DB >> 8680412

Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.

E H Schuchman1.   

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Year:  1995        PMID： 8680412     DOI： 10.1002/humu.1380060412

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.  Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol.

Authors:  Ching Yin Lee; Larbi Krimbou; Jérôme Vincent; Chantal Bernard; Pierre Larramée; Jacques Genest; Michel Marcil
Journal:  Hum Genet       Date:  2003-02-27       Impact factor: 4.132

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.  Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Authors:  Laura Rodríguez-Pascau; Laura Gort; Edward H Schuchman; Lluïsa Vilageliu; Daniel Grinberg; Amparo Chabás
Journal:  Hum Mutat       Date:  2009-07       Impact factor: 4.878

5.  Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.

Authors:  Margaret M McGovern; Melissa P Wasserstein; Bruno Bembi; Roberto Giugliani; K Eugen Mengel; Marie T Vanier; Qi Zhang; M Judith Peterschmitt
Journal:  Orphanet J Rare Dis       Date:  2021-05-10       Impact factor: 4.123

6.  Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

Authors:  Marta Gómez-Grau; Elena Garrido; Mónica Cozar; Víctor Rodriguez-Sureda; Carmen Domínguez; Concepción Arenas; Richard A Gatti; Bru Cormand; Daniel Grinberg; Lluïsa Vilageliu
Journal:  PLoS One       Date:  2015-08-19       Impact factor: 3.240

7.  Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.

Authors:  Huma Arshad Cheema; Iqra Ghulam Rasool; Muhammad Nadeem Anjum; Muhammad Yasir Zahoor
Journal:  Pak J Med Sci       Date:  2020 Mar-Apr       Impact factor: 1.088
  7 in total

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