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

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  1. Article

    Open Access

    Smoking in preeclamptic women is associated with higher birthweight for gestational age and lower soluble fms-like tyrosine kinase-1 levels: a nested case control study

    Smoking paradoxically increases the risk of small-for-gestational-age (SGA) birth but protects against preeclampsia. Some studies have reported a "U-shaped" distribution of fetal growth in preeclamptic pregnan...

    Susan R Kahn, Nisha D Almeida, Helen McNamara, Gideon Koren… in BMC Pregnancy and Childbirth (2011)

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  2. Article

    Open Access

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

    Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. In Niemann-Pick patients, SMPD1 gene defects are report...

    Zari Dastani, Isabelle L Ruel, James C Engert, Jacques Genest Jr… in BMC Medical Genetics (2007)

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