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Obstacles to Early Diagnosis of Gaucher Disease
Published 2025-01-01“…Samantha Nishimura,* Charis Ma,* Ellen Sidransky, Emory Ryan National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA*These authors contributed equally to this workCorrespondence: Ellen Sidransky, National Human Genome Research Institute, National Institutes of Health, Building 35A -1E623 Convent Drive, MSC 3708, Bethesda, MD, 20892-3708, USA, Tel +1-301-451-0901, Fax +301-402-6438, Email sidranse@nih.govAbstract: Gaucher disease (GD) is a rare lysosomal storage disorder resulting from a deficiency of the lysosomal enzyme glucocerebrosidase caused by biallelic variants in the GBA1 gene. …”
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Abraham Patchornik: The Contemporary Relevance of His Work for Chemistry and Biology
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Rubella and Congenital Rubella Syndrome in the Philippines: A Systematic Review
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Robust Automated Harmonization of Heterogeneous Data Through Ensemble Machine Learning: Algorithm Development and Validation Study
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Injecting hope: the potential of intratumoral immunotherapy for locally advanced and metastatic cancer
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Raising Healthy Children: Go, Slow, Whoa
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Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)
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Raising Healthy Children: Go, Slow, Whoa
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Characterization of novel human endogenous retrovirus structures on chromosomes 6 and 7
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Light-dependent modulation of protein localization and function in living bacteria cells
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