Search Results - niemann-pick+disease

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Genes For Niemann-Pick Type C Disease
Niemann-Pick disease is a class of inherited lipid storage diseases. Niemann-Pick Type C disease is an autosomal recessive neurovisceral lipid storage disorder which leads to systemic and neurological abnormalities including ataxia, seizures, and loss of speech. Patients with the disease typically die as children. The biochemical hallmark of Niemann-Pick...
Published: 4/8/2024   |   Inventor(s): Danilo Tagle, Melissa Ashlock, Peter Pentchev, Jill Morris, Stacie Loftus, Jessie Gu, Eugene Carstea
Keywords(s): C, Disease, Duke DNA Project, GAXXXX, GENES, GXXXXX, IA6XXX, IAXXXX, IXXXXX, NA2BXX, NA2XXX, NAXXXX, NIEMANN-PICK, Niemann-Pick disease, NXXXXX, Pick disease of the brain, Pick's disease, TYPE, UA1XXX
Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Neurology, Application > Research Materials, Application > Diagnostics, TherapeuticArea > Rare / Neglected Diseases