Type 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we report our experience with 14 patients with this genotype. Our data suggests that most patients with N370S/R496H present with mild manifestations and often do not require treatment. This information is important for counseling newly diagnosed patients and GD1 carrier couples.

中文翻译：

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1型Gaucher病的N370S / R496H基因型-自然病史以及对症状前诊断和咨询的意义。

N370S / R496H（N409S / R535H）基因型的1型高雪氏病（GD1）患者越来越多地通过携带者筛查和新生儿筛查来识别。但是，有关与该基因型相关的表型的信息有限。在这里，我们报告了我们对14位具有这种基因型患者的经验。我们的数据表明，大多数N370S / R496H患者表现为轻度表现，通常不需要治疗。此信息对于咨询新诊断的患者和GD1携带者夫妇很重要。