ArticleMolecular genetics and metabolism reports2020
The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Case Report: A case of surgical and enzyme replacement therapy for type I Gaucher disease complicating femoral shaft pathological fracture.Frontiers in surgery · 2025Article
- Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations.International journal of molecular sciences · 2021Observational
- Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.International journal of molecular sciences · 2020Article
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Authors and funding
7 authors.
Funding
Abstract
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.
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