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尼曼-皮克疾病与双边上腺质量

Sharifah Noor Adrilla Binti Long Mohd Noor Affendi¹, Chin Voon Tong¹, Nurul Dayana Binti Nordin²

¹Endocrine Unit, Department of Medicine, Hospital Melaka, 75400 Melaka, Malaysia.

JCEM case reports

|December 11, 2023

概括

尼曼-皮克病 (NPD) 型B是一种罕见的溶酶体储存障碍,可在成年人中呈现异常. 这一案例突出了一个成年妇女,由于NPD型B而患有肝壮症和内出血.

科学领域:

遗传学是一个遗传学.
生物化学生物化学
罕见疾病罕见疾病

背景情况:

尼曼-皮克病 (NPD) 包含四种类型的溶酶体储存障碍,其遗传方式是自体的衰退模式.
乙型NPD通常呈现出更好的预后,允许生存到成年期,通常涉及多器官,但神经影响最小.

关键词:

上腺上腺上腺上腺瘤/上腺质/上腺过度增生上皮层疾病上皮层疾病

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