ArticleClinical chemistry2017
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.
Article in Clinical chemistry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 50 citations in OpenAlex.
- A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.International journal of neonatal screening · 2024Review
- Newborn Screening for 6 Lysosomal Storage Disorders in China.JAMA network open · 2024Article
- Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.Orphanet journal of rare diseases · 2024Review
- Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.Frontiers in pediatrics · 2024Article
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.Biology · 2023Review
- Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.Molecular genetics and metabolism reports · 2023Article
- Applications of Tandem Mass Spectrometry (MS/MS) in Protein Analysis for Biomedical Research.Molecules (Basel, Switzerland) · 2022Review
- The LINCE Project: A Pathway for Diagnosing NCL2 Disease.Frontiers in pediatrics · 2022Article
- Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).Therapeutics and clinical risk management · 2022Review
- Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.Diagnostics (Basel, Switzerland) · 2021Article
- Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.International journal of neonatal screening · 2020Article
- Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts.Analytical chemistry · 2020Article
- A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.Analytical chemistry · 2020Article
- Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.International journal of molecular sciences · 2020Article
- Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.International journal of molecular sciences · 2020Review
- Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.Orphanet journal of rare diseases · 2020Article
- Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots.The Journal of pediatrics · 2020Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundWe expanded the use of tandem mass spectrometry combined with liquid chromatography (LC-MS/MS) for multiplex newborn screening of seven lysosomal enzymes in dried blood spots (DBS). The new assays are for enzymes responsible for the mucopolysaccharidoses (MPS-I, -II, -IIIB, -IVA, -VI, and -VII) and type 2 neuronal ceroid lipofuscinosis (LINCL).
methodsNew substrates were prepared and characterized for tripeptidyl peptidase 1 (TPP1), α-
resultsDeidentified DBS samples from 62 nonaffected newborns were analyzed to simultaneously determine (run time 2 min per DBS) the activities of TPP1, NAGLU, and GUSB, along with those for α-iduronidase (IDUA), iduronate-2-sulfatase (I2S),
conclusionsThe new multiplex assay provides a robust comprehensive newborn screening assay for the mucopolysaccharidoses. The method has been expanded to include additional lysosomal storage diseases.
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