Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
about
Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats.Glycosaminoglycans detection methods: Applications of mass spectrometry.Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases.Newborn screening for lysosomal storage diseasesUse of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean populationProtonation sites and dissociation mechanisms of t-butylcarbamates in tandem mass spectrometric assays for newborn screening.New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometryTandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI.Enzymatic Screening and Diagnosis of Lysosomal Storage DiseasesIdentification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.Newborn screening for lysosomal storage disorders.Functional proteomics: application of mass spectrometry to the study of enzymology in complex mixtures.Diagnosis of the mucopolysaccharidoses.The use of mass spectrometry to analyze dried blood spots.Expanded newborn screening by mass spectrometry: New tests, future perspectives.Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometryMolecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.High-throughput assay of 9 lysosomal enzymes for newborn screening.Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.Facile identification of photocleavable reactive metabolites and oxidative stress biomarkers in proteins via mass spectrometry.Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry.
P2860
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P2860
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Tandem mass spectrometry for t ...... VI (Maroteaux-Lamy syndrome).
@ast
Tandem mass spectrometry for t ...... VI (Maroteaux-Lamy syndrome).
@en
Tandem mass spectrometry for t ...... s for mucopolysaccharidosis VI
@nl
type
label
Tandem mass spectrometry for t ...... VI (Maroteaux-Lamy syndrome).
@ast
Tandem mass spectrometry for t ...... VI (Maroteaux-Lamy syndrome).
@en
Tandem mass spectrometry for t ...... s for mucopolysaccharidosis VI
@nl
prefLabel
Tandem mass spectrometry for t ...... VI (Maroteaux-Lamy syndrome).
@ast
Tandem mass spectrometry for t ...... VI (Maroteaux-Lamy syndrome).
@en
Tandem mass spectrometry for t ...... s for mucopolysaccharidosis VI
@nl
P2093
P2860
P356
P1433
P1476
Tandem mass spectrometry for t ...... VI (Maroteaux-Lamy syndrome).
@en
P2093
C Ronald Scott
Frantisek Turecek
Martin Sadilek
Michael H Gelb
Trisha A Duffey
P2860
P304
P356
10.1021/AC102090V
P407
P577
2010-10-20T00:00:00Z