Alpha Galactosidase A
Mostrando 1-12 de 200 artigos, teses e dissertações.
-
1. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and int
Adv. rheumatol.. Publicado em: 13/01/2020
-
2. Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation
Abstract Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and cerebrovascular disease, and small-fiber peripheral neuropathy. This article describes a Brazilian family af
J. inborn errors metab. screen.. Publicado em: 15/07/2019
-
3. GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
Resumo Fundamento: A doença de Fabry (DF) é uma doença de armazenamento lisossômico ligada ao cromossomo X, devido a mutações no gene da alfa galactosidase A (GLA), levando a deficiência enzimática de alfa-galactosidase (α-Gal A) e acúmulo de globotriaosilceramida (Gb3) e globotriaosilsulfingosina (liso-Gb3), causando disfunção de múltiplos ó
Arq. Bras. Cardiol.. Publicado em: 10/07/2019
-
4. The Central Nervous System Involvement in Fabry Disease: A Review
Abstract Fabry disease (FD) is an X-linked, lysosomal storage disorder caused by a mutation in the alpha galactosidase (GLA) gene leading to a deficiency in α-galactosidase A enzyme (α-Gal A) activity, which in turn results in accumulation of glycosphingolipids in different cells. The 2 major clinical phenotypes are the classic severe phenotype and the mil
J. inborn errors metab. screen.. Publicado em: 30/05/2019
-
5. The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Abstract Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only
J. inborn errors metab. screen.. Publicado em: 16/05/2019
-
6. Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role
Abstract: Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diagnosis. The typical site involves th
An. Bras. Dermatol.. Publicado em: 2018-06
-
7. Estudo do sistema BlaR/Blal e de dois operons codificando sistemas de efluxo RND em Caulobacter crescentus. / Study of the BlaR/BlaI system and two operons encoding RND efflux systems from Caulobacter crescentus.
The aim of this work is to characterize three clusters of genes from the alpha proteobacterium Caulobacter crescentus involved in metal and antibiotics response. We analyzed the cluster comprising genes CC1637-CC1640, which contains a BlaR/BlaI signal transduction system, and we performed a comparative analysis with two RND efflux systems consisting on genes
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 27/04/2012
-
8. Apparent digestibility of simplified and semi-simplified diets, with and without addition of enzymes, and nutritional value of fibrous sources for rabbits
The objectives of this study were to evaluate the digestibility of the nutrients of simplified and semi-simplified diets, with and without inclusion of exogenous enzymes and to determine the nutritional value of the fibrous sources. The tested feedstuffs were: alfalfa hay, hay from the upper third of the cassava foliage and cassava leaf meal, using a complet
Revista Brasileira de Zootecnia. Publicado em: 2012-07
-
9. White matter lesions in Fabry disease before and after enzyme replacement therapy / Lesões da substância branca na doença de Fabry antes e depois da terapia de reposição enzimática : um seguimento de 2 anos
Objetivo: Relatar os achados neurológicos e de imagem do sistema nervoso central (SNC), observados durante 24 meses de tratamento de reposição enzimática (ERT) com agalsidase-alfa, em pacientes com a doença de Fabry (FD). Método: 8 pacientes foram incluídos; 6 completaram 24 meses de ERT. Os dados foram obtidos aos 0, 12 e 24 meses de ERT. Lesões de
Publicado em: 2010
-
10. Purification and caracterization of α-galactosidases from fungus Penicillium griseoroseum to application in hydrolysis of ologosaccharides in soybean products / Purificação e caracterização de α-galactosidases do fungo Penicillium griseoroseum para utilização na hidrólise de oligossacarídeos de rafinose em derivados de soja
The present work aims to evaluate the efficiency of the purified α-galactosidases from Penicillium griseoroseum in the hydrolysis of the RO present in the free fat soy extract. Penicillium griseoroseum was cultivated in a mineral medium which contained galactomanana as a source of carbone, for 120 hours, at 28 oC. After this period, the medium was dialy
Publicado em: 2007
-
11. Cell wall formation and deposition in coffee seeds development / Formação e deposição da parede celular em sementes de cafe durante o desenvolvimento da semente
No presente trabalho são efetuadas comparações entre a composição dos polissacarídeos de parede celular de grãos verdes de café colhidos de variedades diferentes de Coffea arabica e C. canephoraem que os frutos foram colhidosem umestágio específico de maturação (somente frutos avermelhados) com grãos verdes de cafés denominados conilon e arábi
Publicado em: 2006
-
12. Purification and characterization of an alpha-galactosidase from Aspergillus fumigatus
O fungo termofílico Aspergillus fumigatus secreta as enzimas invertase (beta-frutofuranosidase) e alfa-galactosidase (alfa-D-galactosídeo galactohi-drolase) que estão envolvidas na hidrólise completa dos oligossacarídeos de rafinose. A enzima alfa-galactosidase foi produzida em meio de cultura do fungo Aspergillus fumigatus crescido por 36 h a 42 °C em
Brazilian Archives of Biology and Technology. Publicado em: 2005-03