関連する実験動画

Updated: Sep 9, 2025

Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies
08:56

Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies

Published on: October 7, 2021

2.8K

症例報告: 圧迫性麻痺 (HNPP) の可能性のある遺伝性神経症: 診断評価における遺伝的調査の役割

Salvatore Savasta1, Fabiola Serra2, Lucrezia Galimberti2

  • 1Pediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Frontiers in genetics
|September 2, 2025
PubMed
まとめ

血圧性麻痺 (HNPP) による遺伝性神経症は,しばしば見過ごされる症状である痛みを伴います. HNPPの痛みを早期に認識することは 適切な診断と遺伝子カウンセリングに不可欠です

キーワード:
HNPP子供デミエリン化診断する遺伝学遺伝性神経障害麻痺した

さらに関連する動画

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.2K

関連する概念動画

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
34