Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry

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Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry

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wetenschappelijk artikel

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наукова стаття, опублікована в грудні 2018

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Quantification of 11 enzyme ac ...... raphy-tandem mass spectrometry

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Quantification of 11 enzyme ac ...... raphy-tandem mass spectrometry

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Quantification of 11 enzyme ac ...... raphy-tandem mass spectrometry

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Quantification of 11 enzyme ac ...... raphy-tandem mass spectrometry

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Quantification of 11 enzyme ac ...... raphy-tandem mass spectrometry

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Quantification of 11 enzyme ac ...... raphy-tandem mass spectrometry

@nl

P1476

Quantification of 11 enzyme ac ...... raphy-tandem mass spectrometry

@en

P2093

Mari Ohira

http://www.w3.org/2001/XMLSchema#string

Ryuichi Mashima

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Torayuki Okuyama

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P2860

Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Prevalence of lysosomal storage disorders.

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

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.

Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.

Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry

Lysosomal lipid storage diseases.

Overview of the mucopolysaccharidoses.

P304

9-15

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P31

scholarly article

P356

10.1016/J.YMGMR.2018.08.005

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P407

English

P478

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P577

2018-12-01T00:00:00Z

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P698

30211004

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P921

endocrinology

molecular biology

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6129719

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