Results 1 -
10
of
60
for
Ashkenazi Jewish disorders
- Learning about Gaucher Disease (National Human Genome Research Institute)Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
- ... Z, Shpitzen S, Meiner V. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. 1998 Dec;44(6):867-72. doi: 10.1002/ana.410440604. ... body disease: proton magnetic resonance spectroscopy of the brain and ...
- ... Z, Shpitzen S, Meiner V. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. 1998 Dec;44(6):867-72. doi: 10.1002/ana.410440604. ... body disease: proton magnetic resonance spectroscopy of the brain and ...
- ... backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 ...
- ... gene mutations cause almost all cases of the disease in people of Ashkenazi Jewish descent. One of these mutations replaces the amino ...
- ... general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease. It is an autosomal recessive disease. This means ...
- ... in 35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population typically has liver disease as the primary symptom. In other populations, the ...
- About Tay-Sachs Disease (National Human Genome Research Institute)Tay-Sachs Disease/Start Here ... Tay-Sachs Disease ... National Human Genome Research Institute ... From the National Institutes of Health ... Tay-Sachs disease is a fatal ...
- ... of enzyme function tend to cause Niemann-Pick disease type A. In the Ashkenazi (eastern and central European) Jewish population, three mutations are responsible for about 90 ...
- ... children and have a family history of Canavan disease. Counseling should be considered if both parents are of Ashkenazi Jewish descent. For this group, DNA testing can almost ...