Sphingolipidoses in Morocco: Chemical profiling for an affordable and rapid diagnosis strategy

Sphingolipids in neurodegenerative diseases

(2023) Xueyang Pan et al.   Frontiers in Neuroscience

Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders

(2022) Marcel A Kelkel et al.   Bioanalysis

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

(2022) Wladimir Mauhin et al.   Journal of Clinical Medicine

Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A

(2022) Emma Veronica Carsana et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

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

(2022) Georgina Morton et al.   Orphanet Journal of Rare Diseases

Sphingolipid lysosomal storage diseases: from bench to bedside

(2021) Muna Abed Rabbo et al.   Lipids in Health and Disease

A narrative review of urinary phospholipids: from biochemical aspect towards clinical application

(2021) Xin Li et al.   Translational Andrology and Urology

Sulfatide in health and disease. The evaluation of sulfatide in cerebrospinal fluid as a possible biomarker for neurodegeneration

(2021) Maria Blomqvist et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry

(2021) Justin Mak et al.   MOLECULAR GENETICS AND METABOLISM

Usefulness of urinary glycosaminoglycans assay for an MPS specific screening

(2020) Es‐said Sabir et al.   PEDIATRICS INTERNATIONAL

Recommendations and Best Practices for Standardizing the Pre-Analytical Processing of Blood and Urine Samples in Metabolomics

(2020) Raúl González-Domínguez et al.   Metabolites

Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS

(2020) James Beasley et al.   CLINICA CHIMICA ACTA

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

(2020) Xinying Hong et al.   GENETICS IN MEDICINE

Role of cholesterol and sphingolipids in brain development and neurological diseases

(2019) Ghulam Hussain et al.   Lipids in Health and Disease

Development of a High Coverage Pseudotargeted Lipidomics Method Based on Ultra-High Performance Liquid Chromatography–Mass Spectrometry

(2018) Qiuhui Xuan et al.   ANALYTICAL CHEMISTRY

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

(2018) Monique Piraud et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

High-throughput analysis of sulfatides in cerebrospinal fluid using automated extraction and UPLC-MS/MS

(2017) Maria Blomqvist et al.   JOURNAL OF LIPID RESEARCH

Sphingolipids: membrane microdomains in brain development, function and neurological diseases

(2017) Anne S. B. Olsen et al.   Open Biology

Glucosylsphingosine is a key biomarker of Gaucher disease

(2016) Vagishwari Murugesan et al.   AMERICAN JOURNAL OF HEMATOLOGY

Extraction, chromatographic and mass spectrometric methods for lipid analysis

(2016) Sumitra Pati et al.   BIOMEDICAL CHROMATOGRAPHY

Genetics and genomic medicine in Morocco: the present hope can make the future bright

(2016) Khadija Belhassan et al.   Molecular Genetics & Genomic Medicine

Differential human urinary lipid profiles using various lipid-extraction protocols: MALDI-TOF and LIFT-TOF/TOF analyses

(2016) Phornpimon Tipthara et al.   Scientific Reports

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of Medicine

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

(2015) Sandra D.K. Kingma et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard

(2015) Mina Mirzaian et al.   BLOOD CELLS MOLECULES AND DISEASES

Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples

(2015) Z. Spacil et al.   CLINICAL CHEMISTRY

Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry

(2015) Mina Mirzaian et al.   JOURNAL OF LIPID RESEARCH

Distribution of C16:0, C18:0, C24:1, and C24:0 sulfatides in central nervous system lipid rafts by quantitative ultra-high-pressure liquid chromatography tandem mass spectrometry

(2014) Ana Lis Moyano et al.   ANALYTICAL BIOCHEMISTRY

The Relative Frequency of Lysosomal Storage Disorders

(2014) Srilatha Kadali et al.   JOURNAL OF CHILD NEUROLOGY

Comprehensive analysis of lipids in biological systems by liquid chromatography-mass spectrometry

(2014) Tomas Cajka et al.   TRAC-TRENDS IN ANALYTICAL CHEMISTRY

New insights on glucosylated lipids: Metabolism and functions

(2013) Yohei Ishibashi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy

(2013) Ladislav Kuchař et al.   CLINICA CHIMICA ACTA

Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry

(2013) Mariana Barcenas et al.   CLINICA CHIMICA ACTA

Lysosomal storage diseases—the horizon expands

(2013) Rose-Mary Naaman Boustany   Nature Reviews Neurology

Lipid analysis by thin-layer chromatography—A review of the current state

(2010) Beate Fuchs et al.   JOURNAL OF CHROMATOGRAPHY A

Selective Extraction and Effective Separation of Galactosylsphingosine (Psychosine) and Glucosylsphingosine from Other Glycosphingolipids in Pathological Tissue Samples

(2010) Yu-Teh Li et al.   NEUROCHEMICAL RESEARCH

Lithogenic activity and clinical relevance of lipids extracted from urines and stones of nephrolithiasis patients

(2010) Chanchai Boonla et al.   UROLOGICAL RESEARCH

Sulfogalactosylceramides in motor and psycho-cognitive adult metachromatic leukodystrophy: relations between clinical, biochemical analysis and molecular aspects

(2007) Benoit Colsch et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Generation and characterization of the binding epitope of a novel monoclonal antibody to sulfatide (sulfogalactosylceramide) OL-2: Applications of antigen immunodetections in brain tissues and urinary samples

(2007) Benoit Colsch et al.   JOURNAL OF NEUROIMMUNOLOGY