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Table S1 - Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

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Figshare2015-12-02 更新2026-04-29 收录
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https://figshare.com/articles/dataset/_Glucosylsphingosine_Is_a_Highly_Sensitive_and_Specific_Biomarker_for_Primary_Diagnostic_and_Follow_Up_Monitoring_in_Gaucher_Disease_in_a_Non_Jewish_Caucasian_Cohort_of_Gaucher_Disease_Patients_/857849
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Genotypes for all included GD patients. GBA cDNA accession number NP_000148.2; Traditional amino acid residue numbering, which excludes the first 39 aminoacids of the leader sequence, is provided and designed without the prefix “p”. All detected genotypes are listed and have been confirmed by Sanger sequencing. The cohort is comprised of a non-Jewish, Caucasian cohort of GD patients. (PDF)
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2015-12-02
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