An update on multiplexed mass spectrometry‐based lysosomal storage disease diagnosis

Recent advances in on-site mass spectrometry analysis for clinical applications

(2022) Xiaoyu Zhou et al.   TRAC-TRENDS IN ANALYTICAL CHEMISTRY

Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview

(2022) Alessandro Simonati et al.   Frontiers in Neurology

Mass spectrometry for metabolomics analysis: Applications in neonatal and cancer screening

(2022) Alexander J. Grooms et al.   MASS SPECTROMETRY REVIEWS

The rapidly evolving view of lysosomal storage diseases

(2021) Giancarlo Parenti et al.   EMBO Molecular Medicine

Peptides-based therapy and diagnosis. Strategies for non-invasive therapies in cancer

(2021) Corina Ciobanasu   JOURNAL OF DRUG TARGETING

New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy

(2021) Edward H. Schuchman et al.   Orphanet Journal of Rare Diseases

Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease

(2021) Margarita M. Ivanova et al.   PLoS One

Dried blood sample analysis by antibody array across the total testing process

(2021) Kelly Whittaker et al.   Scientific Reports

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

(2020) Yin-Hsiu Chien et al.   Orphanet Journal of Rare Diseases

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

(2020) Xinying Hong et al.   GENETICS IN MEDICINE

Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives

(2020) Benita Claire Percival et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis

(2020) Sven F. Garbade et al.   PLoS One

Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses

(2020) Rajendra Singh et al.   Diagnostics

Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders

(2020) Alex E. Ryckman et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry

(2020) Stefan Maeser et al.   JOURNAL OF MASS SPECTROMETRY

Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics

(2019) Abdellah Tebani et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study

(2019) Giulia Polo et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Antibody Epitope of Human α-Galactosidase A Revealed by Affinity Mass Spectrometry: A Basis for Reversing Immunoreactivity in Enzyme Replacement Therapy of Fabry Disease

(2018) Zdenek Kukacka et al.   ChemMedChem

Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)

(2018) Miriam Sindelar et al.   Scientific Reports

Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI

(2018) Min-Ju Chan et al.   JOURNAL OF PEDIATRICS

Clinical implementation of gene panel testing for lysosomal storage diseases

(2018) Alexander Gheldof et al.   Molecular Genetics & Genomic Medicine

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions

(2017) Martin L. Katz et al.   NEUROBIOLOGY OF DISEASE

Triplex tandem mass spectrometry assays for the screening of 3 lysosomal storage disorders in a Korean population

(2016) Sung Eun Cho et al.   CLINICA CHIMICA ACTA

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

(2016) Susan Elliott et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular Toxicity

(2016) Christopher J. Folts et al.   PLOS BIOLOGY

Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated with Cardiac and Skeletal Muscle Pathology

(2016) Yohei Sato et al.   Stem Cells Translational Medicine

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry

(2015) Christiane Auray-Blais et al.   CLINICA CHIMICA ACTA

Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri

(2015) Patrick V. Hopkins et al.   JOURNAL OF PEDIATRICS

Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers

(2015) Michel Boutin et al.   JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

(2015) Claudia Cozma et al.   PLoS One

Newborn screening for lysosomal storage disorders

(2015) Dietrich Matern et al.   SEMINARS IN PERINATOLOGY

Focused metabolomics using liquid chromatography/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann–Pick disease type C and 3β-hydroxysteroid dehydrogenase deficiency

(2015) Masamitsu Maekawa et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Molecular Basis of 1-Deoxygalactonojirimycin Arylthiourea Binding to Human α-Galactosidase A: Pharmacological Chaperoning Efficacy on Fabry Disease Mutants

(2014) Yi Yu et al.   ACS Chemical Biology

Lysosomal storage diseases and the heat shock response: convergences and therapeutic opportunities

(2014) Linda Ingemann et al.   JOURNAL OF LIPID RESEARCH

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform

(2013) Ramakrishna S. Sista et al.   CLINICA CHIMICA ACTA

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

(2011) Maurizio Scarpa et al.   Orphanet Journal of Rare Diseases

Dépistage de la maladie de Fabry par mesure de l’activité enzymatique de gouttes de sang séché sur papier filtre

(2011) E. Caudron et al.   REVUE DE MEDECINE INTERNE

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

(2009) Wuh-Liang Hwu et al.   HUMAN MUTATION

Multiplex Enzyme Assay Screening of Dried Blood Spots for Lysosomal Storage Disorders by Using Tandem Mass Spectrometry

(2008) X. K. Zhang et al.   CLINICAL CHEMISTRY

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS