Cargando…

Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et...

Descripción completa

Detalles Bibliográficos
Autores principales:	Elliott, Susan, Buroker, Norman, Cournoyer, Jason J., Potier, Anna M., Trometer, Joseph D., Elbin, Carole, Schermer, Mack J., Kantola, Jaana, Boyce, Aaron, Turecek, Frantisek, Gelb, Michael H., Scott, C. Ronald
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2016
Materias:	Data Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961295/ https://www.ncbi.nlm.nih.gov/pubmed/27508243 http://dx.doi.org/10.1016/j.dib.2016.06.052

Ejemplares similares

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry()
por: Elliott, Susan, et al.
Publicado: (2016)

Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs
por: Gelb, Michael H., et al.
Publicado: (2017)

Improved Reagents for Newborn Screening of Mucopolysaccharidosis Types I, II, and VI by Tandem Mass Spectrometry
por: Chennamaneni, Naveen Kumar, et al.
Publicado: (2014)

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry
por: Li, Ruotong, et al.
Publicado: (2022)

Tandem Mass Spectrometry Assays of Palmitoyl Protein Thioesterase 1 and Tripeptidyl Peptidase Activity in Dried Blood Spots for the Detection of Neuronal Ceroid Lipofuscinoses in Newborns
por: Barcenas, Mariana, et al.
Publicado: (2014)

Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry
por: Brand, Guilherme Dotto, et al.
Publicado: (2013)

Use of Tandem Mass Spectrometry for Newborn Screening of 6 Lysosomal Storage Disorders in a Korean Population
por: Han, Minje, et al.
Publicado: (2011)

Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories
por: Gelb, Michael H., et al.
Publicado: (2022)

Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry
por: Mashima, Ryuichi, et al.
Publicado: (2016)

Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders
por: Skrinjar, Philipp, et al.
Publicado: (2018)

Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools
por: Gelb, Michael H.
Publicado: (2018)

The Importance of Assay Imprecision near the Screen Cutoff for Newborn Screening of Lysosomal Storage Diseases
por: Robinson, Bruce H., et al.
Publicado: (2019)

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry
por: Hall, Patricia L., et al.
Publicado: (2014)

An Easily Overlooked Contamination of Syringes in Newborn Screening by Tandem Mass Spectrometry
por: Wang, Yanyun, et al.
Publicado: (2021)

Newborn Sickle Cell Disease Screening Using Electrospray Tandem Mass Spectrometry
por: Daniel, Yvonne, et al.
Publicado: (2018)

Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry
por: Padilla, Carmencita D., et al.
Publicado: (2022)

Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots
por: Gelb, Michael H., et al.
Publicado: (2018)

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease
por: Chiang, Shu-Chuan, et al.
Publicado: (2018)

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China
por: Ma, Shujun, et al.
Publicado: (2020)

Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry
por: Ohira, Mari, et al.
Publicado: (2018)

Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry
por: Yoon, Hye-Ran
Publicado: (2015)

Identification of a frit-related sample carryover in newborn screening by tandem mass spectrometry
por: Kim, Kyunghun, et al.
Publicado: (2023)

In Search of Disentanglement in Tandem Mass Spectrometry Datasets
por: Abram, Krzysztof Jan, et al.
Publicado: (2023)

Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs
por: Schielen, Peter C. J. I., et al.
Publicado: (2017)

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III
por: Hong, Xinying, et al.
Publicado: (2023)

Erratum to: Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry
por: Yoon, Hye-Ran
Publicado: (2015)

Response to Gelb et al.: “Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs”
por: Millington, David S.
Publicado: (2017)

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily
por: Messina, MariaAnna, et al.
Publicado: (2018)

Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
por: Cicalini, Ilaria, et al.
Publicado: (2021)

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
por: Ruoppolo, Margherita, et al.
Publicado: (2022)

Non-derivatizing Tandem Mass Spectrometry Assay for Expanded Newborn Screening and Cutoffs for Preterm Neonates
por: Lee, Joon Hee, et al.
Publicado: (2023)

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
por: Chien, Yin-Hsiu, et al.
Publicado: (2020)

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis
por: Pfeil, Johannes, et al.
Publicado: (2013)

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition
por: Pieragostino, Damiana, et al.
Publicado: (2020)

Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan
por: Shigematsu, Yosuke, et al.
Publicado: (2021)

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population
por: Zhang, Hong, et al.
Publicado: (2022)

Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia
por: Céspedes, Nora, et al.
Publicado: (2017)

Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate
por: Cohen, Arieh S., et al.
Publicado: (2019)

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode
por: Teber, Tarek A., et al.
Publicado: (2022)

The use of liquid chromatography-tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia: improvements and future perspectives
por: de Hora, Mark, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_dt9pnhuh63k13909qdmeuak9pa