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Updated: Sep 10, 2025

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

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エジプトの患者集団におけるサンフィリッポ・ア症候群 (MPS IIIA) の臨床的,生化学的,および分子的特徴

Ekram Fateen1, Soha S Nosier2, Nahla N Abdel Aziz3

  • 1Biochemical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Orphanet journal of rare diseases
|August 25, 2025
PubMed
まとめ

この研究では,新しい変異を含む,IIIIA型ムコポリサカリドーシス (MPSIIIA) のエジプト患者におけるSGSH遺伝子の4つの病原性変異が特定されました. サンフリッポA患者における初期遺伝子スクリーニングの鍵となる領域として,エクソン6と8が強調されています.

キーワード:
SGSH遺伝子ヘパラン-N-硫酸塩MPS IIIA についてムコポリサカリドーシスIIIAサンフィリッポ症候群A型サルファミダゼ

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