about
Glycosaminoglycans detection methods: Applications of mass spectrometry.Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency allelesNewborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional ProgramsDiagnostic and treatment strategies in mucopolysaccharidosis VI.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.Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometryMutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.Newborn Screening for Lysosomal Storage Disorders.Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.Response to Gelb et al.: "Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs".Newborn screening for Fabry disease in the north-west of Spain.Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs.Biomarkers in Lysosomal Storage DiseasesMisinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs.Treatment strategies for lysosomal storage disorders.Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry.A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem 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.Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Newborn screening for lysosomal storage diseases
@ast
Newborn screening for lysosomal storage diseases
@en
type
label
Newborn screening for lysosomal storage diseases
@ast
Newborn screening for lysosomal storage diseases
@en
prefLabel
Newborn screening for lysosomal storage diseases
@ast
Newborn screening for lysosomal storage diseases
@en
P2093
P2860
P1433
P1476
Newborn screening for lysosomal storage diseases
@en
P2093
C Ronald Scott
Frantisek Turecek
Michael H Gelb
P2860
P304
P356
10.1373/CLINCHEM.2014.225771
P407
P577
2014-12-04T00:00:00Z