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Updated: Feb 11, 2026

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在2型自体逆性低酸性风病的表型多样性

Maimoona Al Qanoobi1, Maryam Al Badi2, Aisha Al Sinani2

  • 1Department of Pediatrics, Al Nahdha Hospital, Muscat, Sultanate of Oman.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
|February 10, 2026
PubMed
概括

2型自体递归低酸性风风病 (ARHR2) 呈现出由于ENPP1基因突变而导致的多种症状. 基因检测对于诊断这种罕见疾病及其相关的酸盐浪费至关重要.

关键词:
ENPP1:电子核酸铁酸盐酶/二酶-1核酸酶.ARHR2:2型自体逆性低酸性恶心病2型骨密度:骨矿物质密度是指骨的矿物质密度.FGF-23:纤维细胞生长因子 23 23GACI:婴儿期的一般性动脉化PPi:无机酸盐是一种无机酸盐.

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