Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.05.016
Abstract: Multiplex tandem mass spectrometry (MS/MS)-based enzyme activity assays for newborn screening (NBS) and diagnosis of lysosomal storage diseases (LSDs) in newborns, using dried blood spots (DBS) on newborn screening cards, have garnered much attention due… read more here.
Keywords: fucosidosis; mannosidosis fucosidosis; mass spectrometry; mannosidosis ... See more keywords
A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Pathology"
DOI: 10.1136/jclinpath-2018-205074
Abstract: Aims Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by α-L-fucosidase deficiency as a result of FUCA1 gene mutations. Here, we studied clinical features and the molecular basis of fucosidosis in a family… read more here.
Keywords: novel homozygous; fucosidosis; fuca1 gene; frameshift mutation ... See more keywords