نتایج جستجو برای: niemann
تعداد نتایج: 2304 فیلتر نتایج به سال:
The molecular basis of Niemann-Pick disease, type A and B, has been confirmed by detection of mutations causing deficiency of the acid sphingomyelinase activity in the patients. It has been shown that mutations, which cause no activity of acid sphingomyelinase, are responsible for the type A and mutations which cause residual activities of the enzyme are responsible for the type B. Acid sphingo...
Christopher Tebbe Faculty I – Electrical Engineering and Information Technology, University of Applied Sciences and Arts Hannover, Ricklinger Stadtweg 120, 30459 Hannover, Germany [email protected] Karl-Heinz Niemann Faculty I – Electrical Engineering and Information Technology, University of Applied Sciences and Arts Hannover, Ricklinger Stadtweg 120, 30459 Hannover, Germany karl...
We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meio...
Niemann-Pick Disease (NPD) refers to a group of disorders with deficiency in lipid storage, causing accumulation of fats in brain and liver that lead to serious damage or dysfunction of mentioned tissues. Its pathogenesis is still unclear, very rarely it has been associated with genetic disorders. Herein we report two cases: one is a 5-yearold boy and another is a 23-year-old woman.
Niemann-Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive neurological disease caused by mutations in either the NPC1 gene (in 95% of cases) or the NPC2 gene. This observational, multicentre genetic screening study evaluated the frequency and phenotypes of NP-C in consecutive adult patients with neurological and psychiatric symptoms. Diagnostic testing for NP-C involved NPC...
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