Article
Preimplantation genetic diagnosis for Niemann-Pick disease type B.
Prenatal diagnosis - 15 Dec 2004
Hellani Ali, Schuchman Edward H, Al-Odaib Ali, Al Aqueel Aida, Jaroudi Kamal, Ozand Pinar, Coskun Serdar
Abstract excerpt
BACKGROUND: Acid sphingomyelinase (ASM) deficient Niemann-Pick disease (NPD) is an autosomal recessive disorder caused by mutations in the ASM gene (SMPD1). More than 70 different mutations have been reported in this gene. NPD type B is the most common type in Saudi Arabia with a frequency of 1:40 000 to 1:100 000. The phenotype of Saudi Type B patients is more severe than patients reported from the West. Two...
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