ArticleClinica chimica acta; international journal of clinical chemistry2014
Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry.
Article in Clinica chimica acta; international journal of clinical chemistry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.Cytotherapy · 2024Guideline
- Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy.International journal of neonatal screening · 2026Article
- Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach.Journal of inherited metabolic disease · 2025Article
- UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.Biomolecules · 2024Article
- Approaches to diagnosis for individuals with a suspected inherited white matter disorder.Handbook of clinical neurology · 2024Review
- A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead.JIMD reports · 2023Article
- The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland.Orphanet journal of rare diseases · 2022Article
- Genetic individual identification from dried urine spots: A complementary tool to drug monitoring and anti-doping testing.Drug testing and analysis · 2022Article
- Recent advances in the mass spectrometric analysis of glycosphingolipidome - A review.Analytica chimica acta · 2020Review
- Automated analysis of dried urine spot (DUS) samples for toxicology screening.Clinical biochemistry · 2020Article
- Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.Journal of inherited metabolic disease · 2018Review
- Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles.Molecular genetics and metabolism reports · 2017Article
- High-throughput analysis of sulfatides in cerebrospinal fluid using automated extraction and UPLC-MS/MS.Journal of lipid research · 2017Article
- Rapid and High-Throughput Detection and Quantitation of Radiation Biomarkers in Human and Nonhuman Primates by Differential Mobility Spectrometry-Mass Spectrometry.Journal of the American Society for Mass Spectrometry · 2016Article
- Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples.Clinical chemistry · 2016Article
- Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report.Orphanet journal of rare diseases · 2015Article
- Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry.Journal of lipid research · 2015Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundTreatments are being developed for metachromatic leukodystrophy (MLD), suggesting the need for eventual newborn screening. Previous studies have shown that sulfatide molecular species are increased in the urine of MLD patients compared to samples from non-MLD individuals, but there is no data using dried blood spots (DBS), the most common sample available for newborn screening laboratories.
methodsWe used ultra-high performance liquid chromatography/tandem mass spectrometry (UHPLC/MS/MS) to quantify sulfatides in DBS and dried urine spots from 14 MLD patients and 50 non-MLD individuals.
resultsSeveral sulfatide molecular species were increased in dried urine samples from all MLD samples compared to non-MLD samples. Sulfatides, especially low molecular species, were increased in DBS from MLD patients, but the sulfatide levels were relatively low. There was good separation in sulfatide levels between MLD and non-MLD samples when dried urine spots were used, but not with DBS, because DBS from non-MLD individuals have measurable levels of sulfatides.
conclusionSulfatide accumulation studies in urine, but not in DBS, emerges as the method of choice if newborn screening is to be proposed for MLD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.