Results 231 to 240 of about 2,496,873 (280)

A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient. [PDF]

Mol Genet Metab Rep
Guimas A, Martins E.
europepmc   +1 more source

Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review. [PDF]

Med Sci Monit
Masiarz A, Kosteczko P, Mazur M, Pelczar P, Kimber-Trojnar Ż, Leszczyńska-Gorzelak B.   +5 more
europepmc   +1 more source

Pathological depositions in human disease: converging mechanisms in atherosclerosis, Alzheimer's disease, and related disorders. [PDF]

Mol Biomed
Ragolia L.
europepmc   +1 more source

Characterizing enteric pathology in MPS IIIA mice suggests disease-specific vulnerability among lysosomal storage disorders. [PDF]

JCI Insight
Ziółkowska EA, Williams L, Eultgen E, Kick GR, Ding X, Sorensen A, Le S, Doray B, Dickson PI, Heuckeroth RO, Cooper JD.   +10 more
europepmc   +1 more source

Lysosomal storage disorders [PDF]

British Journal of Haematology, 2005
SummaryAlthough the first description of a lysosomal storage disorder was that of Tay‐Sachs disease in 1881, the lysosome was not discovered until 1955, by Christian De Duve. The first demonstration by Hers in 1963 of a link between an enzyme deficiency and a storage disorder (Pompe's disease) paved the way for a series of seminal discoveries about the
Ashok Vellodi
exaly   +5 more sources

Autophagy in lysosomal storage disorders [PDF]

Autophagy, 2012
Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis, downregulation of surface receptors, inactivation of pathogenic organisms, repair of the plasma membrane
Susan A Slaugenhaupt, Nina Raben, Rosa Puertollano   +2 more
exaly   +6 more sources

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Treatment for Lysosomal Storage Disorders

Current Pharmaceutical Design, 2020
Lysosomal storage disorders comprise a group of approximately 70 types of inherited diseases resulting due to lysosomal gene defects. The outcome of the defect is a deficiency in either of the three: namely, lysosomal enzymes, activator protein, or transmembrane protein, as a result of which there is an unwanted accumulation of biomolecules inside ...
Jayesh Sheth, Aadhira Nair
exaly   +3 more sources