Niemann-Pick Disease, Type C definition

Niemann-Pick Disease, Type C means the rare autosomal recessive lysosomal storage disease that results from a genetic mutation in the NPC1 or NPC2 protein, resulting in an accumulation of cholesterol and other lipids in the lysosome.
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Examples of Niemann-Pick Disease, Type C in a sentence

  • Sylvain M, Arnold DL, Scriver CR, Schreiber R, Shevell MI, Magnetic Resonance Spectroscopy in Niemann-Pick Disease Type C: Correlation With Diagnosis and Clinical Response to Treatment With Cholestyramine & Lovostatin.

  • Identification of Two Sulfated Cholesterol Metabolites Found in the Urine of a Patient with Niemann-Pick Disease Type C as Novel Candidate Diagnostic Markers.

  • Olive trees are important, he writes; “they represent everything that roots us, anchors us, identifies us, and locates us in this world.

  • If the equipment is not returned within 10 days of the event, Corporate Treasury will charge the district for it.Note: FDMS will deactivate the Tranz 380 within five days after the event.

  • Board Discussion / Action – Nomination of Voting Delegate for the 2022 NYSSBA Annual Business Meeting.

  • Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.

  • Concerns have been expressed regarding hearing loss, which is itself a manifestation of Niemann-Pick Disease Type C.

  • It is my understanding that this is a risk which the participants have been comfortable accepting.With respect to the benefit-risk ratio, I would also respectfully point out that many therapies have been approved by the Agency for malignant diseases which carry predictable, significant morbidity far in excess of adverse effects reported with potential therapies in Niemann-Pick Disease Type C.

  • Fractional Anisotropy and Volumetric Measurements of the Corpus Callosum are Associated with Disease Severity in Niemann-Pick Disease, Type C Apkarian KL (Baltimore, MD), Jung ES, Yoshida S, Mori S, Baker E, Yanjanin N, Porter FD, Lee RObjective: Niemann Pick Disease, Type C (NPC1) is a neurodegenerative lysosomal storage disorder.

  • Available at https:// www.epa.gov/sites/production/files/2015-09/ documents/sop_final_standing_operating_ procedures_2001.pdf.

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