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At least five types of Niemann-Pick disease have been identified.
Most people with type B Niemann-Pick disease live into their 30s or 40s.
Treatments for Niemann-Pick disease are limited with care being mostly supportive.
Other conditions such as Niemann-Pick disease type C have limited drug therapeutic options.
It is the rarest type of Niemann-Pick disease.
There is no treatment for Niemann-Pick disease.
Niemann-Pick disease is named for him and Ludwig Pick.
Support groups and counseling can be helpful for people with Niemann-Pick disease and for their families.
NPC2 is a protein associated with Niemann-Pick disease, type C.
PME has also been reported in Niemann-Pick disease type C.
The researchers took cells from patients with Niemann-Pick disease and exposed them to the Ebola-like virus in the laboratory.
Some cases are associated with genetic diseases such as Niemann-Pick disease or Prader-Willi syndrome.
These results suggest that 2-hydroxypropyl-β-cyclodextrin acutely reverses the storage defect seen in Niemann-Pick disease, type C.
Albert Niemann published the first description of what is now known as Niemann-Pick disease, type A, in 1914.
Niemann-Pick disease (type A).
Compared to other ethnic groups, they more frequently act as carriers of mucolipidosis and Niemann-Pick disease, the latter of which can prove fatal.
Niemann-Pick disease is most commonly seen in families of Eastern European (Ashkenazi) Jewish heritage.
Type A Niemann-Pick disease (approximately 85% of cases) has an extremely poor prognosis with most cases being fatal by the age of 18 months.
It is the official "awareness month" for maladies as well known as breast cancer, as obscure as Niemann-Pick disease.
The incidence among Ashkenazi Jews is estimated to be approximately 1 in 40,000 for type A of Niemann-Pick disease.
Type B and C Niemann-Pick disease have a better prognosis, with many patients with these disorders living into their teens or adulthood.
Provides support for families affected by Niemann-Pick disease type A, B and C. Promotes and supports research.
Niemann-Pick disease type C2 is a fatal hereditary disease characterised by accumulation of low-density lipoprotein-derived cholesterol in lysosomes.
On July 16, the answer came: Hannah had a rare genetic disorder, Niemann-Pick disease type A. It is hard to imagine a worse diagnosis.
This method of detecting cholesterol in cell membranes is used clinically in the study and diagnosis of Type C Niemann-Pick disease.