Gaucher Disease
Mostrando 1-12 de 113 artigos, teses e dissertações.
-
1. Gaucher disease. Presentation of a clinical case and literature review
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
-
2. The Link Between Lysosomal Storage Disorders and More Common Diseases
Abstract In the last decades, it has become more and more evident that lysosomal storage disorders and common neurodegenerative diseases such as Alzheimer and Parkinson diseases have clinical, neuropathological, and genetic features in common, including lysosomal dysfunction and impaired autophagy. Patients with Gaucher and even carriers of Gaucher disease h
J. inborn errors metab. screen.. Publicado em: 30/05/2019
-
3. Hampered Vitamin B12 Metabolism in Gaucher Disease?
Abstract Untreated vitamin B12 deficiency manifests clinically with hematological abnormalities and combined degeneration of the spinal cord and polyneuropathy and biochemically with elevated homocysteine (Hcy) and methylmalonic acid (MMA). Vitamin B12 metabolism involves various cellular compartments including the lysosome, and a disruption in the lysosomal
J. inborn errors metab. screen.. Publicado em: 16/05/2019
-
4. Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the “diagnostic odyssey” for affected
Genet. Mol. Biol.. Publicado em: 11/04/2019
-
5. Home-Based Care for Patients with Lysosomal Storage Disease: Experiences in Argentina
ABSTRACT Enzyme replacement therapy (ERT) is a long term treatment for patients who suffer from lysosomal storage disease. A transversal descriptive study was conducted to evaluate advantages and disadvantages of a home-based care program for patients with Gaucher, Fabry and Mucopolysaccharidosis II (MPS II) diseases. A survey among patients and nurses invol
J. inborn errors metab. screen.. Publicado em: 07/03/2019
-
6. Results From a 12-Month Open-Label Phase 1/2 Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease
Abstract Gaucher disease (GD) is an autosomal recessive lipid storage disorder, caused by deficient activity of the lysosomal enzyme b-glucocerebrosidase, resulting in accumulation of glucocerebroside in tissue macrophages. HGT-GCB-068 was an open-label study designed to explore the efficacy and safety of velaglucerase alfa in children and adolescents with t
J. inborn errors metab. screen.. Publicado em: 28/02/2019
-
7. Gaucher's disease in a patient presenting with hip and abdominal pain
Summary Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liver, lung, spleen and bone marrow in t
Rev. Assoc. Med. Bras.. Publicado em: 2017-12
-
8. The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease
Abstract The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of
Genet. Mol. Biol.. Publicado em: 2016-03
-
9. Gaucher disease in a family from Maranhão
Background: Gaucher disease is an inborn, autosomal recessive error of the metabolism which belongs to the group of lysosomal storage disorders. Objective: This work reports on the treatment of Gaucher disease in several members of the same family from the countryside of Maranhão. Methods: This was an observational, retrospective and prospective, descript
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-10
-
10. Study of enzyme replacement therapy for Gaucher Disease: comparative analysis of clinical and laboratory parameters at diagnosis and after two, five and ten years of treatment
Objective: To evaluate the impact of enzyme replacement therapy for Gaucher Disease on clinical and laboratory parameters after two, five and ten years of treatment. Methods: Data were collected from patient records and analyzed using BioEstat software (version 5.0). Student's t-test, Analysis of Variance (ANOVA), Wilcoxon test and Kruskal–Wallis test w
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-10
-
11. Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry
OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diagnose Pompe, Fabry, Gaucher, Krabbe, and Niemann-Pick A/B diseases, as well as mucopolysaccharidosis I, by tan
Clinics. Publicado em: 2013-11
-
12. Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE
A doença de Gaucher (DG) é uma patologia de depósito de gordura nos lisossomos, de herança autossômica recessiva, caracterizada pelo acúmulo do substrato glicosilceramida, principalmente nas células do sistema reticuloendotelial, em razão da deficiência da enzima β-glicosidase ácida (GBA). O diagnóstico, comumente, é feito pela dosagem da at
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 30/05/2011