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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
International Journal of Molecular Sciences, 2017 Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages.
J. Stirnemann +12 more
semanticscholar +1 more source
The definition of neuronopathic Gaucher disease
Journal of Inherited Metabolic Disease, 2020 Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form—Gaucher type 2—from the subacute or ...
R. Schiffmann +20 more
semanticscholar +1 more source
Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? [PDF]
, 2018 Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.
Cardarelli, L +5 more
core +1 more source
Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source
Lung Involvement in Gaucher Disease
Case Reports in Clinical Practice, 2020 Introduction: Gaucher Disease is an autosomal recessive lysosomal storage disease. Pulmonary involvement in Gaucher Disease is rare and often seen in the severe form of the disease with the worst outcome.
Mahnaz Pejman Sani +2 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 +9 more
core +2 more sources
Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease
Frontiers in Cell and Developmental Biology, 2020 Parkinson disease, the second most common movement disorder, is a complex neurodegenerative disorder hallmarked by the accumulation of alpha-synuclein, a neural-specific small protein associated with neuronal synapses. Mutations in the glucocerebrosidase
Tae-Un Han, Richard Sam, E. Sidransky
semanticscholar +1 more source
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]
, 2019 Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga +5 more
core +2 more sources
Human Molecular Genetics, 2020 Gaucher disease is caused by mutations in the GBA gene, which encodes for the lysosomal enzyme β-glucocerebrosidase (GCase), resulting in the accumulation of storage material in visceral organs and in some cases the brain of affected patients.
G. Massaro +7 more
semanticscholar +1 more source
Clinical Case Reports, 2019 Recognizing Gaucher disease in elderly patients can be challenging. We present a Gaucher disease type 1 case diagnosed in an elderly patient with thrombocytopenia and lung adenocarcinoma.
Wen Shuai +5 more
doaj +1 more source