pick disease การใช้

• PME has also been reported in Niemann-Pick disease type C.
• These include the following : Prader-Willi syndrome; Norrie disease; Niemann Pick disease, type C; and myotonic dystrophy.
• On July 16, the answer came : Hannah had a rare genetic disorder, Niemann-Pick disease type A.
• Degenerative diseases include parkinsonism, amyotrophic lateral sclerosis ( ALS ), multiple sclerosis, Huntington's disease, Niemann-Pick disease, and Friedreich ataxia.
• The research was supported by the National Niemann-Pick Disease Foundation and the Ara Parseghian Medical Research Foundation in Tucson, Arizona.
• Vertical supranuclear ophthalmoplegia has also been associated with metabolic disorders, such as Niemann-Pick disease, Wilson's disease, kernicterus, and barbiturate overdose.
• The similarities between DIPL and the inherited lysosomal storage disorder Niemann-Pick disease type C also present an issue for regulators.
• It is also seen in several other conditions, classically Tay-Sachs Disease, but also in Niemann-Pick Disease, Sandhoff disease, and mucolipidosis.
• Finsen suffered from Niemann Pick disease, which inspired him to sunbathe and investigate the effects of light on living things.
• The main members of this group are Niemann Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay Sachs disease and metachromatic leukodystrophy.
• PTCHD4 has three other genes in its family : PTCHD1, PTCHD2, and PTCHD3, as well as the Niemann-Pick disease type C protein.
• Application of FIASMAs therefore do not result in a clinical condition like Niemann-Pick disease, where ASM-activity is completely lacking because of genetic mutations.
• Compared to other ethnic groups, they more frequently act as carriers of mucolipidosis and Niemann Pick disease, the latter of which can prove fatal.
• Cerebellar atrophy has been observed in many other neurological disorders including Huntington's disease, multiple sclerosis, essential tremor, progressive myoclonus epilepsy, and Niemann Pick disease.
• Dr . Brady and his colleagues identified the enzymatic defects in Gaucher's disease, Niemann Pick disease, Fabry disease and the specific metabolic abnormality in Tay-Sachs disease.
• On September 20, 2011, the European Medicines Agency granted HPbCD orphan drug status and designated the compound as a potential treatment for type C Niemann Pick disease.
• S1P5 agonists have been proposed as an innovative mechanism for the treatment of neurodegenerative disorders such as Alzheimer's disease and lysosomal storage disorders such as Niemann Pick disease.
• In 1961, the classification of Niemann Pick disease into types A, B, and C was introduced, and also contained a type D, called the " Nova Scotian type ".
• It was first described by Arnold Pick in 1892 and was originally called " Pick's disease ", a term now reserved for Pick disease, one specific type of frontotemporal dementia.
• Most of these disorders are autosomal recessively inherited such as Niemann-Pick disease, type C, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome ( MPS II ).