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Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

The Journal of pediatrics, 2013-08, Vol.163 (2), p.498-503

2013

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Newborn screening for lysosomal storage diseases

Clinical chemistry (Baltimore, Md.), 2015-02, Vol.61 (2), p.335-346

2015

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Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.304-309

2016

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Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis

Clinical chemistry (Baltimore, Md.), 2017-06, Vol.63 (6), p.1118-1126

2017

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High-throughput assay of 9 lysosomal enzymes for newborn screening

Clinical chemistry (Baltimore, Md.), 2013-03, Vol.59 (3), p.502-511

2013

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Improved Sensitivity Mass Spectrometric Detection of Eicosanoids by Charge Reversal Derivatization

Analytical chemistry (Washington), 2010-08, Vol.82 (16), p.6790-6796

2010

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Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples

Clinical chemistry (Baltimore, Md.), 2016-01, Vol.62 (1), p.279-286

2016

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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

Clinical chemistry (Baltimore, Md.), 2015-11, Vol.61 (11), p.1363-1371

2015

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Specific Substrate for the Assay of Lysosomal Acid Lipase

Clinical chemistry (Baltimore, Md.), 2018-04, Vol.64 (4), p.690-696

2018

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Cytosine Radical Cations: A Gas‐Phase Study Combining IRMPD Spectroscopy, UVPD Spectroscopy, Ion–Molecule Reactions, and Theoretical Calculations

Chemphyschem, 2017-05, Vol.18 (10), p.1293-1301

2017

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Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry

Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.59-63

2018

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Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

Clinical chemistry (Baltimore, Md.), 2004-10, Vol.50 (10), p.1785-1796

2004

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Quantitative analysis of complex protein mixtures using isotope-coded affinity tags

Nature biotechnology, 1999-10, Vol.17 (10), p.994-999

1999

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Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.397-404

2006

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Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

Clinical chemistry (Baltimore, Md.), 2008-12, Vol.54 (12), p.2067-2070

2008

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Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry

Clinica chimica acta, 2014-06, Vol.433, p.39-43

2014

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Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis IVA

Clinical chemistry (Baltimore, Md.), 2011-01, Vol.57 (1), p.128-131

2011

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A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler)

Clinical chemistry (Baltimore, Md.), 2010-12, Vol.56 (12), p.1854-1861

2010

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Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

Analytical chemistry (Washington), 2010-11, Vol.82 (22), p.9587-9591

2010

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Cascade Dissociations of Peptide Cation-Radicals. Part 2. Infrared Multiphoton Dissociation and Mechanistic Studies of z-Ions from Pentapeptides

Journal of the American Society for Mass Spectrometry, 2012-08, Vol.23 (8), p.1351-1363

2012

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UV‐vis spectroscopy of gas‐phase ions

Mass spectrometry reviews, 2023-01, Vol.42 (1), p.206-226

Tureček, František

2023

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Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)

Analytical chemistry (Washington), 2011-02, Vol.83 (3), p.1152-1156

2011

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How I have learnt to ignore bibliometrics

Mass spectrometry reviews, 2024-05, Vol.43 (3), p.422-426

Tureček, František

2024

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Selenocysteine as a Latent Bioorthogonal Electrophilic Probe for Deubiquitylating Enzymes

Journal of the American Chemical Society, 2016-10, Vol.138 (42), p.13774-13777

2016

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Tandem Mass Spectrometry for the Direct Assay of Enzymes in Dried Blood Spots: Application to Newborn Screening for Mucopolysaccharidosis II (Hunter Disease)

Clinical chemistry (Baltimore, Md.), 2007-01, Vol.53 (1), p.137-140

2007

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Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

Newborn screening for lysosomal storage diseases

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis

High-throughput assay of 9 lysosomal enzymes for newborn screening

Improved Sensitivity Mass Spectrometric Detection of Eicosanoids by Charge Reversal Derivatization

Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples

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

Specific Substrate for the Assay of Lysosomal Acid Lipase

Cytosine Radical Cations: A Gas‐Phase Study Combining IRMPD Spectroscopy, UVPD Spectroscopy, Ion–Molecule Reactions, and Theoretical Calculations

Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry

Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

Quantitative analysis of complex protein mixtures using isotope-coded affinity tags

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis IVA

A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler)

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

Cascade Dissociations of Peptide Cation-Radicals. Part 2. Infrared Multiphoton Dissociation and Mechanistic Studies of z-Ions from Pentapeptides

UV‐vis spectroscopy of gas‐phase ions

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis II (Hunter Syndrome)

How I have learnt to ignore bibliometrics

Selenocysteine as a Latent Bioorthogonal Electrophilic Probe for Deubiquitylating Enzymes

Tandem Mass Spectrometry for the Direct Assay of Enzymes in Dried Blood Spots: Application to Newborn Screening for Mucopolysaccharidosis II (Hunter Disease)

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