Niemann-Pick Disease Type C, Juvenile Neurologic Onset

Niemann-Pick Disease Type C, Juvenile Neurologic Onset(来自ICD-11)
别称:
Niemann-Pick Disease Type C, Classic Form
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Niemann-Pick Disease Type C, Juvenile Neurologic Onset, also known as niemann-pick disease type c, classic form, is related to niemann-pick disease and niemann-pick disease type c, adult neurologic onset. An important gene associated with Niemann-Pick Disease Type C, Juvenile Neurologic Onset is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Plasma lipoprotein assembly, remodeling, and clearance and Ebola virus infection in host. Affiliated tissues include eye.
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参考文献
MALACARDS
AR
Child
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2
23
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