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Updated: Jun 11, 2025

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在赫尔曼斯基-普德拉克综合征中功能障碍

Tadafumi Yokoyama1, Kevin J O'Brien1, Tesiya M Franklin1

  • 1Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

American journal of nephrology
|October 9, 2024
PubMed
概括

赫曼斯基-普德拉克综合征 (HPS) 与轻度功能障碍有关,特别是在BLOC-3疾病中. 功能随着年龄的增长而下降,在BLOC-3中比BLOC-2更快,在HPS-1中具有特定的管状变化.

关键词:
塞罗伊德脂素 (Ceroid lipofuscin) 是一种类型的脂素.慢性功能障碍 慢性功能障碍估计的淋巴膜过率.纤维化 纤维化 纤维化赫曼斯基 - 普德拉克综合征

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