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Niemann-Pick disease
[ nee-muhn-pik di-zeez ]
noun
- a rare, hereditary lipid-storage disease, occurring primarily among Ashkenazic Jews, in which abnormal lipid metabolism results in enlargement of the liver, spleen, and lymph nodes, and in progressive mental and physical deterioration.
Word History and Origins
Origin of Niemann-Pick disease1
Example Sentences
But then both of them experienced troubling symptoms, precipitating multiple medical tests, and then finally, a devastating dual diagnosis: a rare, debilitating and fatal neurodegenerative disease known as Niemann-Pick disease type C.
Orphazyme said its application for FDA approval of arimoclomol, a treatment for genetic disorder Niemann-Pick disease type C, had not been successful.
These include potential treatments for sickle cell anemia and Niemann-Pick disease, a lethal metabolic disorder.
“It is not unheard of to develop Niemann-Pick disease as an adult, but it is very, very rare,” Dr. Toro said.
She was diagnosed at six years old with the neuro-degenerative condition Niemann-Pick disease type C.
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