Results 21 to 30 of about 7,425 (206)
Metachromatic leukodystrophy: A case report
Bangabandhu Sheikh Mujib Medical University Journal, 2016 Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are ...
Gopen Kumar Kundu +2 more
doaj +1 more source
Infantile Metachromatic Leukodystrophy: Case Report
Case Reports in Clinical Practice, 2023 Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms.
Salsabeel Hamad +4 more
doaj +1 more source
Arylsulfatase A (ASA) in Parkinson’s Disease: From Pathogenesis to Biomarker Potential
Brain Sciences, 2020 Parkinson’s disease (PD), the second most common neurodegenerative disorder after Alzheimer’s disease, is a clinically heterogeneous disorder, with obscure etiology and no disease-modifying therapy to date.
Efthalia Angelopoulou +3 more
doaj +1 more source
A closer look at ARSA activity in a patient with metachromatic leukodystrophy
Molecular Genetics and Metabolism Reports, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Kathleen Doherty +6 more
doaj +1 more source
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis
Molecular Genetics & Genomic Medicine, 2020 Background Metachromatic Leukodystrophy (MLD, OMIM 250100) is a neurodegenerative disease caused by mutations in the ARSA gene (OMIM 607574) that lead to deficiency in Arylsulfatase A (ASA).
Jesús A. Juárez‐Osuna +4 more
doaj +1 more source
Annals of Clinical and Translational Neurology, 2023 Objective Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter.
Murtadha Al‐Saady +13 more
doaj +1 more source
Therapeutics and Clinical Risk Management, 2022 Jowita Biernawska,1 Katarzyna Kotfis,2 Jolanta Szymańska-Pasternak,3 Anna Bogacka,4 Joanna Bober3 1Department of Anesthesiology and Intensive Therapy, Pomeranian Medical University, Szczecin, Poland; 2Department of Anesthesiology, Intensive ...
Biernawska J +4 more
doaj
Nature Communications, 2022 Non-alcoholic steatohepatitis (NASH) and type 2 diabetes are closely linked, but the connecting pathophysiological mechanisms are incompletely understood.
Magdalene K. Montgomery +16 more
doaj +1 more source
Acta Scientiarum: Biological Sciences, 2023 Soil microbiota has a key role in the dynamics of natural and agro-ecosystems and is sensitive to changes in these environments. This study evaluated changes in the microbiological properties of soils under an organic production system of banana ‘BRS ...
Luana Silva Cerqueira +3 more
doaj +1 more source
Brain MRI and biological diagnosis in five Tunisians MLD patients
Diagnostic Pathology, 2012 Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is characterized by an accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide sulfatase i.e.
Barboura Ilhem +8 more
doaj +1 more source