Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.70093
Abstract: More than 60 lysosomal disorders have been described to date, and continued advancements in molecular (i.e., next generation sequencing) and biochemical (i.e., mass spectrometry) genetic testing will increase this number. In parallel, the same advancements… read more here.
Keywords: screening diagnosis; lysosomal disorders; disorders biochemical; diagnosis lysosomal ... See more keywords
Precision newborn screening for lysosomal disorders
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.194
Abstract: PurposeThe implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.MethodsThe… read more here.
Keywords: precision newborn; lysosomal disorders; screening lysosomal; false positive ... See more keywords
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants
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DOI: 10.3390/ijms21176355
Abstract: Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a… read more here.
Keywords: novel; lysosomal disorders; assessing lysosomal; era identification ... See more keywords