Literature DB >> 8401540

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

O Levran1, R J Desnick, E H Schuchman.   

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Year:  1993        PMID： 8401540     DOI： 10.1002/humu.1380020414

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


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  10 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.  Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.

Authors:  Iris Schrijver; Maigi Külm; Phyllis I Gardner; Eugene P Pergament; Morris B Fiddler
Journal:  J Mol Diagn       Date:  2007-04       Impact factor: 5.568

3.  Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

Authors:  Calogera M Simonaro; Jae-Ho Park; Efrat Eliyahu; Nataly Shtraizent; Margaret M McGovern; Edward H Schuchman
Journal:  Am J Hum Genet       Date:  2006-03-14       Impact factor: 11.025

4.  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

5.  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

Review 6.  The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Authors:  E H Schuchman
Journal:  J Inherit Metab Dis       Date:  2007-07-12       Impact factor: 4.982

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

Review 8.  Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

Authors:  Margaret M McGovern; Ruzan Avetisyan; Bernd-Jan Sanson; Olivier Lidove
Journal:  Orphanet J Rare Dis       Date:  2017-02-23       Impact factor: 4.123

9.  Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Authors:  Huiwen Zhang; Yu Wang; Zhuwen Gong; Xiaoyan Li; Wenjuan Qiu; Lianshu Han; Jun Ye; Xuefan Gu
Journal:  Orphanet J Rare Dis       Date:  2013-01-28       Impact factor: 4.123

10.  Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report.

Authors:  Abedelmajeed Nasereddin; Suheir Ereqat
Journal:  J Med Case Rep       Date:  2018-09-18
  10 in total

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