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3 in total

1. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4.

Authors: L da Veiga Pereira; R J Desnick; D A Adler; C M Disteche; E H Schuchman
Journal: Genomics Date: 1991-02 Impact factor: 5.736

2. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.

Authors: E H Schuchman; M Suchi; T Takahashi; K Sandhoff; R J Desnick
Journal: J Biol Chem Date: 1991-05-05 Impact factor: 5.157

3. Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.

Authors: L E Quintern; E H Schuchman; O Levran; M Suchi; K Ferlinz; H Reinke; K Sandhoff; R J Desnick
Journal: EMBO J Date: 1989-09 Impact factor: 11.598

3 in total

Review 1. 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

2. Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.

Authors: Cosima Rhein; Christiane Mühle; Johannes Kornhuber; Martin Reichel
Journal: Int J Mol Sci Date: 2015-06-15 Impact factor: 5.923

3. Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol.

Authors: Zari Dastani; Isabelle L Ruel; James C Engert; Jacques Genest; Michel Marcil
Journal: BMC Med Genet Date: 2007-12-18 Impact factor: 2.103

3 in total