Results 31 to 40 of about 14,130 (212)

Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports [PDF]

Journal of Clinical and Diagnostic Research, 2015
Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India.
DOLANCHAMPA MODAK, SASMIT ROY, UTTAM NATH, S.K.GUHA   +3 more
doaj   +1 more source

Parkinson's disease biomarkers: perspective from the NINDS Parkinson's Disease Biomarkers Program [PDF]

, 2017
Biomarkers for Parkinson's disease (PD) diagnosis, prognostication and clinical trial cohort selection are an urgent need. While many promising markers have been discovered through the National Institute of Neurological Disorders and Stroke Parkinson's ...
Albin, Roger, Alcalay, Roy N., Babcock, Debra, Bowman, F. DuBois, Chen-Plotkin, Alice, David, Karen K., Dawson, Ted M., Dewey, Richard B., Jr., Foroud, Tatiana, German, Dwight, Gwinn, Katrina, Huang, Xuemei, Lungu, Codrin, Petyuk, Vlad, Potashkin, Judith A., Rosenthal, Liana S., Saunders-Pullman, Rachel, Scherzer, Clemens R., Sieber, Beth-Anne, St Hillaire-Clarke, Coryse, Sutherland, Margaret, Swanson-Fischer, Christine, Vaillancourt, David E., Walt, David R., West, Andrew B., Zhang, Jing   +25 more
core   +1 more source

Glucocerebrosidase Defects as a Major Risk Factor for Parkinson’s Disease

Frontiers in Aging Neuroscience, 2020
Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), occur in a considerable percentage of all patients with sporadic Parkinson’s disease (PD), varying between 8% and 12% across the world.
Micol Avenali, Micol Avenali, Fabio Blandini, Fabio Blandini, Silvia Cerri   +4 more
doaj   +1 more source

Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. [PDF]

, 2016
Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries.
Amato, Dominick J, Brill-Almon, Einat, Chertkoff, Raul, Giraldo, Pilar, Pastores, Gregory M, Petakov, Milan, Rosenbaum, Hanna, Shankar, Suma P, Szer, Jeffrey, Zimran, Ari   +9 more
core   +2 more sources

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

Molecular Genetics & Genomic Medicine, 2020
Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing mutations within
Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou   +8 more
doaj   +1 more source

Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative [PDF]

, 2019
© 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.Background: Gaucher disease (GD) presents with a range of signs and symptoms.
Belmatoug , N, Bembi , B, Bright, J, Deodato, F, Di Rocco, M, Goker-Alpan, O, Hughes, DA, Kuter, David, Lukina, EA, Machaczka, M, Mehta, Atul, Mengel, E, Nagral, A, Nakamura, K, Narita, A, Oliveri , B, Pastores, G, Pérez-López, J, Ramaswami, U, Salek, Mir-Saeed Shayegan, Schwartz, IV, Szer, J, Vom Dahl, S, Weinreb, NJ, Zimran, A   +24 more
core   +6 more sources

Monoclonal Antibodies against Human β‐Glucocerebrosidase [PDF]

European Journal of Biochemistry, 1983
Monoclonal antibodies were obtained against the membrane‐bound lysosomal enzyme β‐glucocerebrosidase (acid β‐glucosidase), which is deficient in Gaucher's disease.BALB/c mice were immunized with homogeneous enzyme protein extracted from a sodium dodecyl sulphate/polyacrylamide gel.
Barneveld, R A, Tegelaers, F P, Ginns, E I, Visser, P, Laanen, L A, Brady, R O, Galjaard, H, Barranger, J A, Reuser, R J, Tager, J M   +9 more
openaire   +2 more sources

Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

Frontiers in Neurology, 2022
Gaucher Disease (GD) 2 is a rare inherited lysosomal disorder. Early-onset and rapid progression of neurovisceral symptoms lead to fatal outcome in early childhood. Treatment is symptomatic, a curative therapy is currently not available. This prospective
Charlotte Aries, Benjamin Lohmöller, Stephan Tiede, Stephan Tiede, Karolin Täuber, Karolin Täuber, Guido Hartmann, Cornelia Rudolph, Nicole Muschol   +8 more
doaj   +1 more source

Production of the main celiac disease autoantigen by transient expression in Nicotiana benthamiana [PDF]

, 2015
Celiac Disease (CD) is a gluten sensitive enteropathy that remains widely undiagnosed and implementation of massive screening tests is needed to reduce the long term complications associated to untreated CD.
Acevedo, Gonzalo Raúl, Bayardo, Mariela Paula, Chirdo, Fernando Gabriel, Marin Viegas, Vanesa Soledad, Petruccelli, Silvana   +4 more
core   +2 more sources

Glucocerebrosidase deficits in sporadic Parkinson disease [PDF]

Autophagy, 2014
Parkinson disease (PD) is a progressive neurodegenerative movement disorder characterized pathologically by abnormal SNCA/α-synuclein protein inclusions in neurons. Impaired lysosomal autophagic degradation of cellular proteins is implicated in PD pathogenesis and progression.
Murphy, Karen E, Halliday, Glenda
openaire   +3 more sources