Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy [PDF]
JIMD Reports, 2022 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides.
Roberto Giugliani +2 more
exaly +4 more sources
Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy [PDF]
International Journal of Neonatal ScreeningMetachromatic leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA, MIM #250100), which leads to progressive demyelination in the central and peripheral nervous systems,
Alessandra Vasco +19 more
doaj +2 more sources
Spatial lipidomics reveals demyelination and remyelination dynamics in the mouse brain [PDF]
Journal of Lipid ResearchMyelin pathology in demyelinating diseases is accompanied by lipid remodeling that remains challenging to characterize at the spatial level using traditional mass spectrometry.
Mikolaj Opielka +12 more
doaj +2 more sources
Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy [PDF]
Case Reports in PsychiatryMetachromatic leukodystrophy (MLD) is a rare, autosomal recessive disorder of lipid metabolism characterized by deficiency of arylsulfatase A (ARSA), which leads to an accumulation of sulfatides in central and peripheral nerve system and eventually to ...
Moritz Metelmann +3 more
doaj +2 more sources
Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program [PDF]
International Journal of Neonatal ScreeningMetachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function.
Sabrina Malvagia +21 more
doaj +2 more sources
Extended coverage of human serum glycosphingolipidome by 4D-RP-LC TIMS-PASEF unravels association with Parkinson’s disease [PDF]
Nature CommunicationsGlycosphingolipids (GSLs) are important targets in immune, infectious, lysosomal storage diseases, cancer, and neurodegenerative diseases. Circulatory GSLs profiling in clinical samples is restricted by the lack of mid- and high-throughput analytical ...
Huong Giang Vo +6 more
doaj +2 more sources
Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy [PDF]
The Journal of Clinical InvestigationMetachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder caused by mutations in the arylsulfatase A (ARSA) gene, resulting in lower sulfatase activity and the toxic accumulation of sulfatides in the central and peripheral ...
Shyam Ramachandran +28 more
doaj +2 more sources
Vitamin K enhances the production of brain sulfatides during remyelination. [PDF]
PLoS ONE, 2018 Multiple sclerosis (MS) is a devastating neurological disease, which is characterized by multifocal demyelinating lesions in the central nervous system.
Daniela C Popescu +6 more
doaj +1 more source
Open Biology, 2022 Metachromatic leukodystrophy is a neurological lysosomal deposit disease that affects public health despite its low incidence in the population. Currently, few reports are available on pathophysiological events related to enzyme deficiencies and ...
Nayibe Tatiana Sanchez-Álvarez +3 more
doaj +1 more source
Journal of Lipid Research, 2014 Mammalian kidneys are rich in sulfatides. Papillary sulfatides, especially, contribute to renal adaptation to chronic metabolic acidosis. Due to differences in their ceramide (Cer) anchors, the structural diversity of renal sulfatides is large. However,
Christian Marsching +10 more
doaj +1 more source