Clinical presentation and diagnosis of mucopolysaccharidoses.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.01.003
Abstract: Mucopolysaccharidoses (MPS) are estimated to affect1 in 25,000 live births although specific rates vary between the ethnic origin and country. MPS are a group of lysosomal storage disorders, which cause the buildup of GAG(s) due… read more here.
Keywords: presentation; diagnosis; diagnosis mucopolysaccharidoses; presentation diagnosis ... See more keywords
Prenatal diagnosis of mucopolysaccharidoses type II by two‐dimensional electrophoresis and mass spectrometry in amniotic fluid
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Obstetrics and Gynaecology Research"
DOI: 10.1111/jog.15135
Abstract: To introduce a quantitative determination of heparan sulfate and dermatan sulfate by mass spectrometry and to compare it with two‐dimensional electrophoresis of the glycosaminoglycans in the amniotic fluid for the prenatal diagnosis of mucopolysaccharidoses type… read more here.
Keywords: two dimensional; mass spectrometry; amniotic fluid; diagnosis mucopolysaccharidoses ... See more keywords
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23179979
Abstract: Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activity, consequently impairing the stepwise degradation of glycosaminoglycans (GAGs). Except for MPS II, the other types… read more here.
Keywords: mps iva; mucopolysaccharidoses taiwanese; diagnosis; updated confirmatory ... See more keywords