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Updated: Sep 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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SHQ1に関連した低ミエリン性白血病:画像の特徴とホモジゴス型の症例報告

Abdullah AlBathi1, Abdullah AlMutairi1, Ahmed AlDraihem2

  • 1Department of Radiology, King Fahad Medical City, Riyadh, Saudi Arabia.

Radiology case reports
|August 21, 2025
PubMed
まとめ

SHQ1に関連する低ミエリン性白血病は,ミエリン発育に影響を与える珍しい遺伝疾患です. この報告は,ホモジゴスなSHQ1変異の2番目の症例を詳細に説明し,白血病の診断において高度なイメージングの必要性を強調しています.

キーワード:
低ミエリン性白血病神経遺伝学神経放射線学小児神経イメージングSHQ1 について

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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