Results 21 to 30 of about 3,736 (191)

Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2010
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
doaj   +1 more source

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act [PDF]

, 2015
Background: Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a complex multisystemic phenotype of
Hoffmann, Georg Friedrich, Mechler, Konstantin, Mountford, William K., Ries, Markus   +3 more
core   +1 more source

Cherry Anthocyanins Regulate NAFLD by Promoting Autophagy Pathway

Oxidative Medicine and Cellular Longevity, Volume 2019, Issue 1, 2019., 2019
Nonalcoholic fatty liver disease (NAFLD) is a common chronic disease that threatens human health, and present therapies remain limited due to the lack of effective drugs. Lipid metabolic disturbance and oxidative stress have strong links to the development of NAFLD, while autophagy was generally accepted as a key regulatory mechanism on these steps ...
Qiang Chu, Shuang Zhang, Meng Chen, Wen Han, Ruoyi Jia, Wen Chen, Xiaodong Zheng, Mohamed M. Abdel-Daim   +7 more
wiley   +1 more source

Corneal dystrophies

Orphanet Journal of Rare Diseases, 2009
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically,
Klintworth Gordon K
doaj   +1 more source

Lipid Storage Myopathy in Behçet′s Disease: A Rare Cause of Elevated Serum Creatine Kinases Levels

Case Reports in Rheumatology, Volume 2012, Issue 1, 2012., 2012
Muscular involvement in Behçet’s disease is rare and there are only a few case reports in the literature. The causes of elevated muscle enzymes in a patient with Behcet’s disease are many, including myositis, drug‐induced myopathy, metabolic myopathy, and the disease itself.
Sedat Yilmaz, Muhammet Cinar, Yıldırım Karslioglu, Ismail Simsek, Hakan Erdem, Salih Pay, Ayhan Dinc, B. Bannwarth, A. Giusti, L. Krause   +9 more
wiley   +1 more source

Estudos sobre o xanthoma: biochimica e pathogenia Studies in xanthoma: biochemistry and pathogenesis

Memorias do Instituto Oswaldo Cruz, 1935
1. No presente trabalho são descriptos dois casos de xanthelasmatose (xanthoma) com perturbações accentuadas do metabolismo dos lipides e esteroes. 2. Um dos casos apresentou notavel cholesteroluria não mostrando o doente lesões renaes, ao passo que o ...
Gilberto G. Villela, Rabello Junior
doaj   +1 more source

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations [PDF]

, 2010
The aim of this retrospective study was to determine the prevalence of lysosomal storage disorders (LSDs) in the Czech Republic. The data on cases diagnosed between 1975 and 2008 were collected and analyzed.
Berná, Linda, Dvořáková, Lenka, Elleder, Milan, Kožich, Viktor, Ledvinová, Jana, Poupětová, Helena   +5 more
core   +2 more sources

Phospholipogenic Pharmaceuticals Are Associated with a Higher Incidence of Histological Findings than Nonphospholipogenic Pharmaceuticals in Preclinical Toxicology Studies

Journal of Toxicology, Volume 2012, Issue 1, 2012., 2012
While phospholipidosis is thought to be an adaptive response to chemical challenge, many phospholipogenic compounds are known to display adverse effects in preclinical species and humans. To investigate the link between phospholipogenic administration and incidence of preclinical histological signals, an internal AstraZeneca in vivo toxicology report ...
Linda R. Barone, Scott Boyer, James R. Damewood Jr., James Fikes, Paul J. Ciaccio, J. J. Stegeman   +5 more
wiley   +1 more source

Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice [PDF]

, 2017
Slc17a5−/− mice represent an animal model for the infantile form of sialic acid storage disease (SASD). We analyzed genetic and histological time-course expression of myelin and oligodendrocyte (OL) lineage markers in different parts of the CNS, and ...
Andries, L.J. (Luc J.), Bondt, A. (An) de, Crauwels, M.L.A. (Marion L.A.), D'Hooge, R. (Rudi), Daneels, R.F., Goris, I. (Ilse), Göhlmann, H.W.H. (Hinrich W. H.), Knaapen, M.W. (Michiel), Mancini, G.M.S. (Grazia), Moechars, D. (Dieder), Schot, R. (Rachel), Stroobants, S. (Stijn), Van Acker, N.G.G. (Nathalie G.G.), Verbeek, E. (Elly), Verheijen, F.W. (Frans)   +14 more
core   +2 more sources

Gaucher Disease and the Synucleinopathies

BioMed Research International, Volume 2006, Issue 1, 2006., 2006
Several recent observations suggest a connection between Gaucher disease, the inherited deficiency of glucocerebrosidase, and the synucleinopathies. Rare patients have been observed who develop both Gaucher disease and parkinsonism. Autopsy studies on these subjects reveal synuclein‐positive Lewy bodies and inclusions.
Kathleen S. Hruska, Ozlem Goker-Alpan, Ellen Sidransky   +2 more
wiley   +1 more source