Current concepts in genetics. Lysosomal storage diseases.
作者信息
Kolodny E H
出版信息
N Engl J Med. 1976 May 27;294(22):1217-20. doi: 10.1056/NEJM197605272942206.
PMID:817200
Abstract
摘要
相似文献
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Current concepts in genetics. Lysosomal storage diseases.遗传学的当前概念。溶酶体贮积症。
N Engl J Med. 1976 May 27;294(22):1217-20. doi: 10.1056/NEJM197605272942206.
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Carrier screening techniques for Tay-Sachs and other lysosomal storage diseases.用于检测泰-萨克斯病及其他溶酶体贮积症的携带者筛查技术。
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Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction.血清溶酶体酶测定在进行性神经功能障碍患者脑鞘脂类沉积症检测中的应用
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Diagnosis of inherited metabolic disorders affecting the nervous system.影响神经系统的遗传性代谢紊乱的诊断。
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An unusual case of phospholipidosis.一例罕见的磷脂沉积症病例。
Virchows Arch A Pathol Anat Histol. 1978 Apr 17;377(4):329-38. doi: 10.1007/BF00507133.
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