Read The Latest Issue..pdf

pfriegersdigest-ISSUE-06-2022.pdf
Preview of Read the latest issue.
🔗 Source: nnpdf.org
📊 Size: 732 KB
👤 Author: FWP
⬇️ Downloads: 69

Summary

Pfrieger's Digest for Niemann-Pick Type C summarizes research advances from September 2021 to April 2022. 102 articles were published, including 9 reviews. Key findings include: neurofilament L protein can be used as a biomarker for NPC, but its levels increase with age, making it non-specific; a 17-domain severity scale is recommended for clinical studies, while a 5-domain scale is sufficient for daily practice; NPC impacts patients' and caregivers' quality of life, causing frustration, social isolation, and distress; a "fat fingerprint" in blood may serve as a biomarker; and genetic factors, such as single nucleotide polymorphisms, may influence disease progression and vulnerability to NPC1 defects.

Description

Pfrieger's Digest for Niemann-Pick Type C summarizes research advances from September 2021 to April 2022. 102 articles were published, including 9 reviews.

Technical Information

  • File Format: PDF
  • File Size: 732 KB
  • Pages: 13
  • Language: EN
  • Author: FWP
  • Total Downloads: 69
  • Last Updated: 7 days ago

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