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1篇 您的检索式：作者名="Sinelli M.T."

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		题名	作者	年代	出处	被引量
	1	病例报道:神经节糖苷GM_1沉积病的胎儿水肿1例显示文摘GM1 gangliosidosis is a rare disorder characterized by de-ficiency of the β-galactosidase enzyme, with the resulting accumulation of glycolipids, oligosaccharides and especially GM1 ganglioside. It can be classified into three clinical types according to the time of onset: infantile, juvenile and adult form. We report a case of GM1 gangliosidosis presenting with fetal hydrops at 24 wk of gestation. The parents were consanguineous; the baby, born at 35 wk of gestation, was dysmorphic and presented severe generalized oedema. The most common cause of fetal hydrops was excluded. A lysosomal storage disease was suspected, and GM1 gangliosidosis was diagnosed. The child developed severe growth and mental retardation and died when she was 21 mo old. Conclusion: We suggest that the possible association between inborn errors of metabolism and antenatal ascites should be considered, in order to offer genetic counselling due to the high recurrence risk and the availability of early antenatal diagnosis.	Sinelli M.T. Motta M. Cattarelli D. G. Chirico 朱新菊	2006	世界核心医学期刊文摘(儿科学分册)2006，2，6：	0

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