Results 131 to 140 of about 14,130 (212)
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients [PDF]
, 2000 Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid alpha-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid â-glucosidase ...
Amaral, O. +4 more
core
Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease
Frontiers in PediatricsGaucher Disease Type 3 (GD3) is a rare lysosomal storage disorder characterized by both visceral and neurological involvement. Pulmonary manifestations can significantly impact prognosis and quality of life.
Vincenza Gragnaniello +7 more
doaj +1 more source
Molecular Genetics & Genomic MedicineGaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1‐encoded enzyme, β‐glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD).
Kanako Higashi +28 more
doaj +1 more source
Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report)
, 2008 Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and results from a genetic deficiency of the enzyme glucocerebrosidase (glucosylceramidase).
Davarian, A., Mirbehbahani, N.B.
core +1 more source
Effects of a Shortage of Imiglucerase on Three Patients with Type I Gaucher Disease [PDF]
, 2011 Background: Children with Gaucher disease type I (GD1) are usually treated with enzyme replacement therapy (ERT) at a dose of 30-60U/Kg/2W. Recently, due to an acute shortage supply of imiglucerase, a reduced dose or a reduced infusion frequency was ...
Ferreira, AC, Sequeira, S
core
A study of murine bone marrow cells cultured in bioreactors which create an environment which simulated microgravity [PDF]
Previous research indicated that mouse bone marrow cells could be grown in conditions of simulated microgravity. This environment was created in rotating bioreactor vessels. On three attempts mouse cells were grown successfully in the vessels.
Lawless, Brother Desales
core +1 more source
Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers
Molecular NeurobiologyAbstract One of the most common genetic risk factors for Parkinson’s disease (PD) is variants in GBA1 , which encodes the lysosomal enzyme glucocerebrosidase (GCase). GCase deficiency has been associated with an increased PD risk, but not all individuals with low GCase ...
Emma N. Somerville +12 more
openaire +3 more sources
Pleiotropic effects of variants in dementia genes in Parkinson disease [PDF]
, 2018 Benitez, Bruno A +11 more
core +2 more sources