Published in Clin Chem on February 03, 2005
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem (2008) 2.48
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis (2006) 2.01
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin Chem (2006) 1.38
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med (2010) 1.38
Gene therapy for mucopolysaccharidosis. Expert Opin Biol Ther (2007) 1.28
Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab (2013) 1.13
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening. J Chromatogr B Analyt Technol Biomed Life Sci (2012) 1.02
Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population. Korean J Lab Med (2011) 0.95
Mucopolysacccharidoses: From understanding to treatment, a century of discoveries. Genet Mol Biol (2012) 0.94
Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. J Inherit Metab Dis (2010) 0.93
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. Orphanet J Rare Dis (2012) 0.86
Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots. J Inherit Metab Dis (2011) 0.83
Newborn screening for lysosomal storage disorders. Clin Chem (2005) 0.80
Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better? J Inherit Metab Dis (2015) 0.78
Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases. N Am J Med Sci (Boston) (2016) 0.75
Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians. JIMD Rep (2011) 0.75
Computational design of an enzyme catalyst for a stereoselective bimolecular Diels-Alder reaction. Science (2010) 4.32
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem (2004) 4.10
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat (2008) 3.53
Inhibition of lipoprotein-associated phospholipase A2 reduces complex coronary atherosclerotic plaque development. Nat Med (2008) 3.33
Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation. Proc Natl Acad Sci U S A (2005) 3.30
Biochemistry and physiology of mammalian secreted phospholipases A2. Annu Rev Biochem (2008) 2.94
Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes. Proc Natl Acad Sci U S A (2005) 2.85
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem (2008) 2.48
Heterologous expression of proteins from Plasmodium falciparum: results from 1000 genes. Mol Biochem Parasitol (2006) 2.45
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med (2002) 2.44
Molecular mechanism of calcium channel regulation in the fight-or-flight response. Sci Signal (2010) 2.25
5-Fluoro-2-indolyl des-chlorohalopemide (FIPI), a phospholipase D pharmacological inhibitor that alters cell spreading and inhibits chemotaxis. Mol Pharmacol (2008) 2.24
Simplified capillary electrophoresis nanospray sheath-flow interface for high efficiency and sensitive peptide analysis. Rapid Commun Mass Spectrom (2010) 2.20
High-throughput assay of 9 lysosomal enzymes for newborn screening. Clin Chem (2013) 2.09
Interfacial kinetic and binding properties of the complete set of human and mouse groups I, II, V, X, and XII secreted phospholipases A2. J Biol Chem (2002) 2.08
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A (2005) 2.05
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis (2006) 2.01
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem (2004) 1.99
Importance of group X-secreted phospholipase A2 in allergen-induced airway inflammation and remodeling in a mouse asthma model. J Exp Med (2007) 1.96
Protein farnesyltransferase inhibitors exhibit potent antimalarial activity. J Med Chem (2005) 1.81
Protein cross-linking analysis using mass spectrometry, isotope-coded cross-linkers, and integrated computational data processing. J Proteome Res (2006) 1.81
Rational modification of a candidate cancer drug for use against Chagas disease. J Med Chem (2009) 1.73
Toward a general mechanism of electron capture dissociation. J Am Soc Mass Spectrom (2005) 1.72
Groups IV, V, and X phospholipases A2s in human neutrophils: role in eicosanoid production and gram-negative bacterial phospholipid hydrolysis. J Biol Chem (2001) 1.67
A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler). Clin Chem (2010) 1.65
The protein farnesyltransferase inhibitor Tipifarnib as a new lead for the development of drugs against Chagas disease. J Med Chem (2005) 1.60
Second generation tetrahydroquinoline-based protein farnesyltransferase inhibitors as antimalarials. J Med Chem (2007) 1.60
Recombinant production and properties of binding of the full set of mouse secreted phospholipases A2 to the mouse M-type receptor. Biochemistry (2007) 1.56
Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin Chem (2008) 1.55
Regulation and function of epithelial secreted phospholipase A2 group X in asthma. Am J Respir Crit Care Med (2013) 1.51
Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors. J Genet Couns (2002) 1.51
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatr (2013) 1.51
Activation of cytokine production by secreted phospholipase A2 in human lung macrophages expressing the M-type receptor. J Immunol (2005) 1.49
Highly specific and broadly potent inhibitors of mammalian secreted phospholipases A2. J Med Chem (2008) 1.49
Group X secretory phospholipase A(2) augments angiotensin II-induced inflammatory responses and abdominal aortic aneurysm formation in apoE-deficient mice. Atherosclerosis (2010) 1.48
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. J Biol Chem (2005) 1.45
Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis (2005) 1.44
Efficacy, pharmacokinetics, and metabolism of tetrahydroquinoline inhibitors of Plasmodium falciparum protein farnesyltransferase. Antimicrob Agents Chemother (2007) 1.43
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin Chem (2006) 1.38
Thematic review series: lipid posttranslational modifications. Fighting parasitic disease by blocking protein farnesylation. J Lipid Res (2005) 1.36
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol (2004) 1.36
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Anal Chem (2010) 1.34
Bactericidal properties of human and murine groups I, II, V, X, and XII secreted phospholipases A(2). J Biol Chem (2001) 1.34
Hydrolysis products of cAMP analogs cause transformation of Trypanosoma brucei from slender to stumpy-like forms. Proc Natl Acad Sci U S A (2006) 1.34
A class of sterol 14-demethylase inhibitors as anti-Trypanosoma cruzi agents. Proc Natl Acad Sci U S A (2003) 1.34
Glycosylation status of haptoglobin in sera of patients with prostate cancer vs. benign prostate disease or normal subjects. Int J Cancer (2008) 1.33
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA. Clin Chem (2010) 1.33
Sustained activation of proton channels and NADPH oxidase in human eosinophils and murine granulocytes requires PKC but not cPLA2 alpha activity. J Physiol (2006) 1.32
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome). Anal Chem (2010) 1.29
Interfacial enzymology of parvovirus phospholipases A2. J Biol Chem (2004) 1.28
COPI acts in both vesicular and tubular transport. Nat Cell Biol (2011) 1.28
Role of charge properties of bacterial envelope in bactericidal action of human group IIA phospholipase A2 against Staphylococcus aureus. J Biol Chem (2002) 1.25
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr (2004) 1.24
Oncogenic action of secreted phospholipase A2 in prostate cancer. Cancer Res (2004) 1.21
Glycogen synthase kinase 3 is a potential drug target for African trypanosomiasis therapy. Antimicrob Agents Chemother (2008) 1.21
Improved sensitivity mass spectrometric detection of eicosanoids by charge reversal derivatization. Anal Chem (2010) 1.20
Structural genomics of pathogenic protozoa: an overview. Methods Mol Biol (2008) 1.20
Determination of pyrophosphorylated forms of lipid A in Gram-negative bacteria using a multivaried mass spectrometric approach. Proc Natl Acad Sci U S A (2008) 1.18
Resistance to a protein farnesyltransferase inhibitor in Plasmodium falciparum. J Biol Chem (2005) 1.18
Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening. Methods Mol Biol (2007) 1.18
Absolute quantification of specific proteins in complex mixtures using visible isotope-coded affinity tags. Anal Chem (2004) 1.16