ArticleAnalytical chemistry2018
Detection of Infantile Batten Disease by Tandem Mass Spectrometry Assay of PPT1 Enzyme Activity in Dried Blood Spots.
Article in Analytical chemistry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.International journal of neonatal screening · 2022Review
- The LINCE Project: A Pathway for Diagnosing NCL2 Disease.Frontiers in pediatrics · 2022Article
- The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.Frontiers in neurology · 2021Review
- 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
- Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots.International journal of neonatal screening · 2019Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
A new tandem mass spectrometry (MS/MS)-based approach for measurement of the enzymatic activity of palmitoyl protein thioesterase I (PPT1) in dried blood spots (DBS) is presented. Deficiency in this enzyme leads to infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease, CLN1). The assay could distinguish between 80 healthy newborns and three previously diagnosed INCL patients. Unlike the fluorimetric PPT1 assay, the MS/MS assay does not require recombinant β-glucosidase. Furthermore, the assay could be easily combined with a TPP1 enzyme assay (for CLN2 disease) and can be potentially multiplexed with a large panel of additional lysosomal enzyme assays by MS/MS for newborn screening and postscreening analysis.
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Registered trials
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