Results 11 to 20 of about 37,512 (109)
Orphanet Journal of Rare Diseases, 2021 Over the past three decades the lysosomal storage diseases have served as model for rare disease treatment development. While these efforts have led to considerable success, important challenges remain.
Edward H. Schuchman +2 more
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Orphanet Journal of Rare Diseases, 2020 Background Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase.
Can Ficicioglu +5 more
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Lysosomal Storage Diseases: Heterogeneous Group of Disorders [PDF]
BioImpacts, 2013 The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes.
David A. Wenger +2 more
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A new framework for evaluating the health impacts of treatment for Gaucher disease type 1
Orphanet Journal of Rare Diseases, 2017 Background The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities between those states, and preferences ...
Michael L. Ganz +6 more
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Molecular Genetics and Metabolism Reports, 2017 Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulphatase
Mahoko Furujo +2 more
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Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq
Advanced Medical Journal, 2023 Background and objectives:The lysosomal lipid storage diseases are diverse disorders each due to an inherited deficiency of a lysosomal hydrolase enzyme leading to the intralysosomal accumulation of the enzyme’s particular substrate; each catabolic step,
Chenar Omer Ali Al-Jaf +4 more
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Heliyon, 2021 Mucopolysaccharidoses (MPSs) are a heterogeneous group of diseases that have in common the accumulation of glycosaminoglycans (mucopolysaccharides) within the lysosome.
Luis M. Carbajal-Rodríguez +4 more
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CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]
Romanian Journal of Pediatrics, 2017 Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
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Biomarkers in Lysosomal Storage Diseases
Diseases, 2016 A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal
Joaquin Bobillo Lobato +2 more
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Journal of Inborn Errors of Metabolism and Screening, 2014 Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules.
Joseph Alroy DVM, DACVP +1 more
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