(Sandhoff疾病)。

Anales Espanoles De Pediatria Pub Date : 2019-11-14 DOI:10.32388/269904

M. Herrera Martín, F. Montejo Iglesias, T. Pàmpols, A. Franquet, P. Cuadrado Bello

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引用次数: 10

摘要

本文报道了一例新的桑德霍夫病(神经节脂质病GM2型或变异O)，并对患者血清和白细胞以及新生儿、父亲和母亲的血清进行了酶促研究。将其与Tay-Sachs病(神经节脂质病GM2 I型o型变体B)的临床表达、酶学研究及进化进行比较。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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[Sandhoff disease].

A new case of Sandhoff disease is presented (gangliosidosis GM2 type II or variant O) with enzymatic study in serum and leukocytes from the patient, as well as in serum from the newborn's, father and mother. The clinical expression, enzymatic study and evolution are discussed comparing them with Tay-Sachs disease (gangliosidosis GM2 type I o variant B).

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