I-cell disease: multiple lysosomal-enzyme defect.

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作者信息

Lightbody J, Wiesmann U, Hadorn B, Herschkowitz N

出版信息

Lancet. 1971 Feb 27;1(7696):451. doi: 10.1016/s0140-6736(71)92435-4.

DOI:10.1016/s0140-6736(71)92435-4

PMID:4100420

Abstract

摘要

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I-cell disease: multiple lysosomal-enzyme defect.

Lancet. 1971 Feb 27;1(7696):451. doi: 10.1016/s0140-6736(71)92435-4.

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A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.一例Ⅱ型粘脂贮积症，产前出现骨骼发育异常，出生时伴有严重继发性甲状旁腺功能亢进。

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Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.黏脂贮积症 II 型小鼠外分泌腺细胞的空泡化代表自噬溶酶体的积累。

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