Results 31 to 40 of about 28,810 (212)
Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease
Egyptian Journal of Medical Human Genetics, 2015 Gaucher disease (GD) is the most frequently encountered lysosomal storage disease caused by inborn defects of the membrane-bound lysosomal enzyme, acid β-glucosidase or glucocerebrosidase.
Azza A.G. Tantawy
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Coenzyme Q10 partially restores pathological alterations in a macrophage model of Gaucher disease [PDF]
, 2017 Background Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids glucosylceramide ...
Cotán, David +9 more
core +3 more sources
Gaucher Disease and Cancer: Concept and Controversy
International Journal of Cell Biology, 2011 Gaucher disease is an inherited disorder caused by a deficiency in the lysosomal hydrolase glucocerebrosidase. There is a wide spectrum of clinical presentations, with the most common features being hepatosplenomegaly, skeletal disease, and cytopenia ...
Francis Y. M. Choy, Tessa N. Campbell
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Gaucher disease and the synucleinopathies: refining the relationship
Orphanet Journal of Rare Diseases, 2012 Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of clinical presentation, with hepatosplenomegaly, haematological
Campbell Tessa N, Choy Francis YM
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Journal of Clinical and Experimental Hepatology, 2014 Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neuronopathic form and type 2 and 3 are the neuronopathic forms.
openaire +2 more sources
Gaucher Disease Involving Virchow’s Lymph Node: a Case Report
Folia Medica, 2018 Gaucher disease is a metabolic storage disorder caused by a mutation in the lysosomal enzyme B-glucocerebrosidase. This disease is usually manifested in new born infants, however, an exceptional case of this disease in adult has been recently reported. A
Zinovkin Dmitry A. +4 more
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Vesivirus 2117 capsids more closely resemble sapovirus and lagovirus particles than other known vesivirus structures [PDF]
, 2017 Vesivirus 2117 is an adventitious agent that in 2009, was identified as a contaminant of CHO cells propagated in bioreactors at a pharmaceutical manufacturing plant belonging to Genzyme.
Bhella, David +8 more
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Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]
, 2020 Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
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Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]
, 2017 The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria +5 more
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Perinatal-lethal Gaucher disease presenting as hydrops fetalis
The Pan African Medical Journal, 2015 Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis.
Emira Ben Hamida +8 more
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