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Análisis de impacto presupuestal del tratamiento farmacológico de la enfermedad de Gaucher en Colombia
(Medellín, Colombia, 2023)
Osteomalacia as an extraintestinal manifestation of Celiac disease in a patient treated for Gaucher disease
(Elsevier, 2020-07)
Gaucher disease (GD) is the most prevalent lysosomal storage disorder. Bone marrow infiltration by Gaucher cells and the subsequent inflammatory events cause bone lesions, which frequently accompany anemia, thrombocytopenia, ...
Tratamento da doença de Gaucher: um consenso brasileiro
(Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular, 2003-06-01)
Gaucher disease is one of the inborn errors of metabolism from lysossomal storage diseases and the most frequent of this group. It iss an autosomal recessive disease with reoccurrence risk of 25% in each pregnancy of ...
Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease
(International Skeletal SocietyBerlín, Alemania, 2011-09-20)
Gaucher disease (GD) is an autosomal recessive
lysosomal storage disorder characterized by the reduced or
absent activity of glucocerebrosidase. The disease is split
into three types. Type 3, or chronic neuronopathic ...
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
(Wiley Blackwell Publishing, Inc, 2019-05)
Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays ...
A validated disease severity scoring system for adults with type 1 Gaucher disease
(Lippincott Williams & Wilkins, 2010-01-01)
Purpose: A validated disease severity scoring system (DS3) for Gaucher disease type 1 (GD1) is needed to standardize patient monitoring and to define patient cohorts in clinical studies. Methods: DS3 domains were established ...
Aspectos neuropsicológicos e comportamentais associados à Doença de Gaucher tipo 1: relato de uma série de casos
(Universidade Federal de São Paulo (UNIFESP), 2015-09-18)
Gaucher disease type I - (DG) is an inborn error of metabolism (IEM), incidenting the group of lysosomal diseases (DL), which is caused by mutation in the gene of acid beta-glucosidase (GBA) which determines disability of ...
Neuronopathic Gaucher disease : Beyond lysosomal dysfunction
(2022-08-03)
Gaucher disease (GD) is an inherited disorder caused by recessive mutations in the GBA1 gene that encodes the lysosomal enzyme β-glucocerebrosidase (β-GC). β-GC hydrolyzes glucosylceramide (GluCer) into glucose and ceramide ...