Results 21 to 30 of about 3,524,002 (263)

Lysosomal Storage Disease [PDF]

Journal of Nepal Medical Association, 2009
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year oldboy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in allfour limbs with hyper-refl exia. On fundus examination cherry red spots were noted at macula.
Binod Khatiwada, A Pokharel
openaire   +5 more sources

New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy

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, Maria D. Ledesma, Calogera M. Simonaro   +2 more
doaj   +1 more source

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

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, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J. Degnan   +5 more
doaj   +1 more source

Lysosomal Lipid Storage Diseases [PDF]

Cold Spring Harbor Perspectives in Biology, 2011
Lysosomal lipid storage diseases, or lipidoses, are inherited metabolic disorders in which typically lipids accumulate in cells and tissues. Complex lipids, such as glycosphingolipids, are constitutively degraded within the endolysosomal system by soluble hydrolytic enzymes with the help of lipid binding proteins in a sequential manner.
Schulze, H., Sandhoff, K.
openaire   +2 more sources

SnapShot: Lysosomal Storage Diseases. [PDF]

Cell, 2020
Lysosomal storage diseases (LSDs) represent a group of monogenic inherited metabolic disorders characterized by the progressive accumulation of undegraded substrates inside lysosomes, resulting in aberrant lysosomal activity and homeostasis. This SnapShot summarizes the intracellular localization and function of proteins implicated in LSDs.
Martina JA, Raben N, Puertollano R.
europepmc   +3 more sources

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, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed, Neal Weinreb   +6 more
doaj   +1 more source

Clarifying lysosomal storage diseases [PDF]

Trends in Neurosciences, 2011
Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. Such proteins include lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
Mark L, Schultz, Luis, Tecedor, Michael, Chang, Beverly L, Davidson   +3 more
openaire   +2 more sources

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

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, Motomichi Kosuga, Torayuki Okuyama   +2 more
doaj   +1 more source

Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation

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, Martín Pérez-García, Raymundo Rodríguez-Herrera, Haydeé Salazar Rosales, Alberto Olaya-Vargas   +4 more
doaj   +1 more source

Astrocytes and lysosomal storage diseases [PDF]

Neuroscience, 2016
Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity.
K V, Rama Rao, T, Kielian
openaire   +2 more sources