Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q36193022

about

Newborn screening and diagnosis of mucopolysaccharidoses Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.Multiplex enzyme assays and inhibitor screening by mass spectrometry.Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.Glycosaminoglycans detection methods: Applications of mass spectrometry.Mucopolysaccharidosis VI.Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I Rapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher disease Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).Pompe disease diagnosis and management guideline.High incidence of later-onset fabry disease revealed by newborn screening α-Galactosidase A expressed in the salivary glands partially corrects organ biochemical deficits in the fabry mouse through endocrine trafficking Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases.Newborn screening for lysosomal storage diseases Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population Protonation sites and dissociation mechanisms of t-butylcarbamates in tandem mass spectrometric assays for newborn screening.New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).Current and emerging therapies for the lysosomal storage disorders.Successful screening for Gaucher disease in a high-prevalence population in tabuleiro do Norte (northeastern Brazil): a cross-sectional study Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry.Newborn screening for lysosomal storage disorders in hungary.Glycogen storage disease types I and II: treatment updates.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 enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminase.Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry A review of treatment of Pompe disease in infants A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.Development of a bile acid-based newborn screen for Niemann-Pick disease type C Weighing the evidence for newborn screening for early-infantile Krabbe disease.

P2860

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P2860

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

http://www.wikidata.org/entity/Q36193022

description

2004 nî lūn-bûn

@nan

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

2004年论文

@zh

2004年论文

@zh-cn

name

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

@ast

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

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type

label

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

@ast

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

@en

prefLabel

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

@ast

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

@en

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CLINCHEM.2004.035907

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Clinical Chemistry

P1476

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

@en

P2093

Ahmad Ghavami

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

B Mario Pinto

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C Ronald Scott

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Frantisek Turecek

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Nestor A Chamoles

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Yijun Li

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P2860

Groups IV, V, and X phospholipases A2s in human neutrophils: role in eicosanoid production and gram-negative bacterial phospholipid hydrolysis

Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry

Application of delayed extraction-matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in pericardial fluid, peritoneal fluid and serum from Gaucher disease patients.

The use of MassARRAY technology for high throughput genotyping.

Proteomic approaches to the diagnosis, treatment, and monitoring of cancer.

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Use of filter paper for the collection and analysis of human whole blood specimens.

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.

New prospects for the treatment of lysosomal storage diseases.

Enzyme therapy for lysosomal storage disease: principles, practice, and prospects.

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1785-1796

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scholarly article

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10.1373/CLINCHEM.2004.035907

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10

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50

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Michael H. Gelb

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2004-08-03T00:00:00Z

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8418643

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15292070

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3428798

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