Results 31 to 40 of about 123,112 (260)
Journal of Nepal Medical Association, 2009 We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
Binod Khatiwada, A Pokharel
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Acetyl-leucine slows disease progression in lysosomal storage disorders
bioRxiv, 2020 Acetyl-DL-leucine (ADLL) is a derivative of the branched chain amino acid leucine. In observational clinical studies ADLL improved symptoms of ataxia, in particular in patients with the lysosomal storage disorder (LSD), Niemann-Pick disease type C 1 ...
E. Kaya +12 more
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Journal of Clinical Medicine, 2020 About two thirds of the patients affected with lysosomal storage diseases (LSD) experience neurological manifestations, such as developmental delay, seizures, or psychiatric problems.
Camila Pará +2 more
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The Heart in Fabry Disease: Mechanisms Beyond Storage and Forthcoming Therapies
Reviews in Cardiovascular Medicine, 2022 In patients with Fabry disease (FD), cardiovascular involvement is the main cause of death and reduction of quality of life. Left ventricular hypertrophy mimicking hypertrophic cardiomyopathy is the main feature of FD cardiac involvement although ...
Maurizio Pieroni +7 more
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Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease
Cell Structure and Function, 2023 Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes ...
Asuka Hamamoto +7 more
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Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease
International Journal of Molecular Sciences, 2020 The lysosome is a central player in the cell, acting as a clearing house for macromolecular degradation, but also plays a critical role in a variety of additional metabolic and regulatory processes.
Shani Blumenreich +3 more
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The rapidly evolving view of lysosomal storage diseases
EMBO Molecular Medicine, 2021 Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex ...
G. Parenti, D. Medina, A. Ballabio
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Achievements and beyond: Scientific trajectory of Professor Mohammad A. Rafi [PDF]
BioImpacts, 2021 This biography highlights the scientific trajectory of Professor Mohammad A. Rafi, Ph.D., who, in particular, has greatly advanced the field of neurodegenerative disorders during his long and successful tenure at Jefferson Medical College, Thomas ...
Yadollah Omidi, Abass Alavi
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The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection
Science, 2022 Lysosomes are key degradative compartments of the cell. Transport to lysosomes relies on GlcNAc-1-phosphotransferase–mediated tagging of soluble enzymes with mannose 6-phosphate (M6P).
Christopher M. Richards +24 more
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Orphanet Journal of Rare Diseases, 2018 Background Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by
Maja Di Rocco +4 more
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