Results 31 to 40 of about 29,070 (238)

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
doaj   +1 more source

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
core   +1 more source

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
doaj   +1 more source

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease [PDF]

, 2016
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1.
Acosta, Walter, Aflaki, Elma, Behre, Bahafta, Burnett, Robert A, Cramer, Carole, Dutra, Amalia, Fujiwara, Hideji, Ginns, Edward I, Hendrix, An, Jung, Olive, Lindstrom, Taylor, Nguyen, Matthew, Ory, Daniel S, Pak, Evgenia, Pavan, William J, Renvoise, Benoit, Rodriguez-Gil, Jorge L, Sidhu, Rohini, Sidransky, Ellen, Siebert, Marina, Tamargo, Rafael, Tayebi, Nahid, Westbroek, Wendy   +22 more
core   +4 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., Pranjol Md Zahidul Islam, Kravchenko Dmitry, Kravchenko Olga, Kudryashov Vadim   +4 more
doaj   +1 more source

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. [PDF]

, 2014
Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes the lysosomal hydrolase glucosylceramidase. Patients with Gaucher disease and heterozygous glucocerebrosidase mutation carriers are at increased risk of developing ...
Abramov, AY, Chau, KY, Cooper, JM, Foltynie, T, Gegg, M, Hughes, D, Magalhaes, J, McNeill, A, Mehta, A, Schapira, AH, Shen, C   +10 more
core   +1 more source

Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice.

PLoS ONE, 2023
BackgroundGaucher disease is a rare autosomal recessive glycosphingolipid storage disease that ultimately leads to reduced life expectancy. Management of Gaucher disease is challenging due to its wide genotypic and phenotypic variability and changing ...
Vernon Johan Louw, Ilanca Fraser, Pilar Giraldo   +2 more
doaj   +1 more source

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, Imene Ayadi, Ines Ouertani, Maroua Chammem, Ahlem Bezzine, Riadh Ben Tmime, Leila Attia, Ridha Mrad, Zahra Marrakchi   +8 more
doaj   +1 more source

Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report

Journal of Medical Case Reports, 2018
Background Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase.
Meng Yang
doaj   +1 more source

Gaucher Disease [PDF]

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