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
Epigenetic Modifications and Neurodegenerative Disorders: A Biochemical Perspective.
Sign Up to like & getrecommendations! Published in 2022 at "ACS chemical neuroscience"
DOI: 10.1021/acschemneuro.1c00701
Abstract: Methylations in living cells are methyl groups attached to amino acids, DNA, RNA, and so on. However, their biochemical roles have not been fully defined. A theory has been postulated that methylation leads to hyperconjugation,… read more here.
Keywords: biochemical perspective; group; disorders biochemical; epigenetic modifications ... See more keywords