相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better?
Shunji Tomatsu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2016)
Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri
Patrick V. Hopkins et al.
JOURNAL OF PEDIATRICS (2015)
Therapies for the bone in mucopolysaccharidoses
Shunji Tomatsu et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Newborn Screening for Lysosomal Storage Diseases
Michael H. Gelb et al.
CLINICAL CHEMISTRY (2015)
Academic Publishing, Part II: Where to Publish Your Work
Clifford B. Saper
ANNALS OF NEUROLOGY (2014)
A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders
Antonina Gucciardi et al.
BIOMEDICAL CHROMATOGRAPHY (2014)
Detecting multiple lysosomal storage diseases by tandem mass spectrometry - A national newborn screening program in Taiwan
Hsuan-Chieh Liao et al.
CLINICA CHIMICA ACTA (2014)
Early initiation of enzyme replacement therapy for the mucopolysaccharidoses
Joseph Muenzer
MOLECULAR GENETICS AND METABOLISM (2014)
Glycan-based biomarkers for mucopolysaccharidoses
Roger Lawrence et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses
Tsutomu Shimada et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses
Shunji Tomatsu et al.
METABOLITES (2014)
High-Throughput Assay of 9 Lysosomal Enzymes for Newborn Screening
Zdenek Spacil et al.
CLINICAL CHEMISTRY (2013)
Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII
Daniel J. Rowan et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry
C. Ronald Scott et al.
JOURNAL OF PEDIATRICS (2013)
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice
Guilherme Baldo et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Newborn screening and diagnosis of mucopolysaccharidoses
Shunji Tomatsu et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Detecting outliers: Do not use standard deviation around the mean, use absolute deviation around the median
Christophe Leys et al.
JOURNAL OF EXPERIMENTAL SOCIAL PSYCHOLOGY (2013)
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III
Jessica de Ruijter et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses
Roger Lawrence et al.
NATURE CHEMICAL BIOLOGY (2012)
A Comprehensive Compositional Analysis of Heparin/Heparan Sulfate-Derived Disaccharides from Human Serum
Wei Wei et al.
ANALYTICAL CHEMISTRY (2011)
Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)
Brian J. Wolfe et al.
ANALYTICAL CHEMISTRY (2011)
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II
G. Schulze-Frenking et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI
Guilherme Baldo et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Impact of Second-Tier Testing on the Effectiveness of Newborn Screening
Donald H. Chace et al.
CLINICAL CHEMISTRY (2010)
Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry
Coleman T. Turgeon et al.
CLINICAL CHEMISTRY (2010)
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study
J. J. McGill et al.
CLINICAL GENETICS (2010)
Enzyme-Replacement Therapy in a 5-Month-Old Boy With Attenuated Presymptomatic MPS I: 5-Year Follow-up
Orazio Gabrielli et al.
PEDIATRICS (2010)
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry
Shunji Tomatsu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Sacral dimple: incidental findings from newborn evaluation (Case Presentation)
Amiko Ohashi et al.
ACTA PAEDIATRICA (2009)
Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I
Sophie Blanchard et al.
CLINICAL CHEMISTRY (2008)
Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry
Toshihiro Oguma et al.
ANALYTICAL BIOCHEMISTRY (2007)
Newborn screening for lysosomal storage disorders
Peter J. Meikle et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
Michael H. Gelb et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Compositional profiling of heparin/heparan sulfate using mass spectrometry: assay for specificity of a novel extracellular human endosulfatase
OM Saad et al.
GLYCOBIOLOGY (2005)
Detection and quantification of sulfated disaccharides from keratan sulfate and chondroitin/dermatan sulfate during chick corneal development by ESI-MS/MS
YT Zhang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Alterations of glycosaminoglycan metabolism in the development of diabetic complications in relation to metabolic control
K Komosinska-Vassev et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2005)
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses
S Tomatsu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease
S Tomatsu et al.
HUMAN MOLECULAR GENETICS (2003)
Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy
D Auclair et al.
MOLECULAR GENETICS AND METABOLISM (2003)