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Gaucher disease

Using induced pluripotent stem cells to investigate the mechanistic link between Gaucher disease and Parkinson related synucleinopathies

Using induced pluripotent stem cells to investigate the mechanistic link between Gaucher disease and Parkinson related synucleinopathies

... Gaucher Disease (GD) FiPS 4F 21C is an induced pluripotent stem cell line derived from fibroblasts of a female Gaucher Disease patient. It has a compound heterozygote mutation in the GBA1 gene ...

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Pulmonary involvement in siblings with Gaucher disease type III

Pulmonary involvement in siblings with Gaucher disease type III

... Introduction. Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P ...

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Pharmacokinetics of Novel Plant Cell-Expressed Taliglucerase Alfa in Adult and Pediatric Patients with Gaucher Disease.

Pharmacokinetics of Novel Plant Cell-Expressed Taliglucerase Alfa in Adult and Pediatric Patients with Gaucher Disease.

... 17. Pastores GM, Petakov M, Giraldo P, Rosenbaum H, Szer J, Deegan PB, et al. (17 June 2014) A phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell ...

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High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients

High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients

... Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the ...

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Coenzyme Q(10) partially restores pathological alterations in a macrophage model of Gaucher disease

Coenzyme Q(10) partially restores pathological alterations in a macrophage model of Gaucher disease

... the disease, an in vitro cellular model of Gaucher disease was developed by treating the THP-1, a human mono- cytic cell line differentiated into macrophage, with a spe- cific inhibitor of GCase, ...

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The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

... of disease severity and prognosis in Gaucher disease (GD) is still ...for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a ...

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Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.

Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.

... and Gaucher disease ...neuronopathic Gaucher disease mouse model, 4L;C* (V394L/V394L + saposin C-/-) that has CNS accumulation of glucosylceramide (GC) and glucosylsphingosine (GS) as well as ...

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The effect of chaperone compounds on glucocerebrosidase stability and activity in fibroblasts from Gaucher Disease patients with different genotypes

The effect of chaperone compounds on glucocerebrosidase stability and activity in fibroblasts from Gaucher Disease patients with different genotypes

... Esta patologia divide-­‐se principalmente em três tipos: o tipo 1 que se caracteriza por afectar tanto crianças como adultos, podendo estes indivíduos viver apenas durante a sua infância ou eventualmente atingir a idade ...

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BIOCHEMICAL AND MOLECULAR GENETIC STUDIES ON GAUCHER DISEASE IN PORTUGAL

BIOCHEMICAL AND MOLECULAR GENETIC STUDIES ON GAUCHER DISEASE IN PORTUGAL

... patients are secondary to systemic complications of the illness), and the age of onset of clinical symptoms and the severity can differ to a large extent. Symptomatic patients exhibit variable splenomegaly (4 to 70 times ...

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Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.

... Current diagnostic steps comprise the measurement of b- glucocerebrosidase enzyme activity in fibroblasts and leucocytes, supported by the detection of the mutation and determination of chitotriosidase and CCL18/PARC ...

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Estudo da doença de Gaucher em Santa Catarina.

Estudo da doença de Gaucher em Santa Catarina.

... Gaucher Disease (GD) was the first described and is the most common lysosomal deposit ...the disease and evaluating the response to enzymatic replacement therapy in patients with GD in Santa ...The ...

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Tratamento da doença de Gaucher: um consenso brasileiro

Tratamento da doença de Gaucher: um consenso brasileiro

... 1 Gaucher disease: Comparative efficacy of mannose- terminated glucocerebrosidase from natural and recombinant ...in Gaucher disease Type 1: Dosage efficacy and adverse effects in 33 patients ...

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Ressonância magnética e o escore BMB na avaliação do acometimento ósseo em pacientes com doença de Gaucher.

Ressonância magnética e o escore BMB na avaliação do acometimento ósseo em pacientes com doença de Gaucher.

... of Gaucher disease: a ...in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging – initial ...

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Aspectos clínicos e nutricionais da doença de Gaucher: estudo prospectivo de 13 crianças em um único centro.

Aspectos clínicos e nutricionais da doença de Gaucher: estudo prospectivo de 13 crianças em um único centro.

... Methods: thirteen patients were prospectively followed up. Gaucher disease was confirmed in all patients through the use of an enzyme assay test to measure glucocerebrosidase enzyme activity. Demographic ...

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DOENÇA DE GAUCHER TIPO 1 NO ESQUELETO: REVISÃO DA AMÉRICA LATINA.

DOENÇA DE GAUCHER TIPO 1 NO ESQUELETO: REVISÃO DA AMÉRICA LATINA.

... Gaucher disease (GD) is the most prevalent lysosomal storage disease, and is characterized by the accumulation of glucosylceramide and glucosylsphingosine in tissues throughout the ...of ...

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Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE

Rastreamento populacional para Doença de Gaucher em Tabuleiro do Norte-CE

... Background. Gaucher Disease (GD) is a hereditary lysosomal storage disorder characterized by the accumulation of glucosylceramide, mainly in the cells of the reticuloendothelial system, due to a deficiency ...

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Evolução do estado nutricional na doença de Gaucher tipo I em tratamento com reposição enzimática - relato de dois casos.

Evolução do estado nutricional na doença de Gaucher tipo I em tratamento com reposição enzimática - relato de dois casos.

... Discussion: the two patients were of low height for age on diagnosis and had experienced an increase in fat mass during treatment, with one patient also presenting with an increase in fat free mass. Energy consumption ...

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Medicamentos de alto custo para doenças raras no Brasil: o exemplo das doenças lisossômicas.

Medicamentos de alto custo para doenças raras no Brasil: o exemplo das doenças lisossômicas.

... approached: Gaucher disease, Fabry disease and mucopolysaccharido- sis type ...I. Gaucher disease has its treatment drug licensed in Brazil and guidelines for its use are established ...

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Doença de Gaucher: uma desordem subdiagnosticada

Doença de Gaucher: uma desordem subdiagnosticada

... of Gaucher disease diagnosis in the General Hospital of Uberlândia Federal University, between 1999 and 2008, which assists a population of approximately 3 million people in 86 municipalities, indicating ...

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Autosomal Dominant Polycystic Kidney Disease: Review and Management Update

Autosomal Dominant Polycystic Kidney Disease: Review and Management Update

... cystic disease but without afected relatives, individuals with early onset of PKD in families with ADPKD, and couples who wish a prenatal or preimplantation genetic ...

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