Clinical implementation of gene panel testing for lysosomal storage diseases
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DOI: 10.1002/mgg3.527
Abstract: The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic… read more here.
Keywords: implementation gene; lysosomal storage; clinical implementation; storage diseases ... See more keywords