11p15.4A-

Adel M Al Shahrani1, Walaa Asiri2, Saad Ali M Alqarni3

  • 1Department of Pediatric Gastroenterology, Abha Maternity and Children Hospital, Abha, SAU.

Cureus
|April 10, 2024
PubMed
概括

尼曼-皮克病 (NPD) 是一组遗传的溶酶体储存障碍. 基因检测证实了NPD类型A在18个月的孩子中,增长延迟和神经问题,由SMPD1基因突变引起.

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