fabry disease/phosphatase

O link é salvo na área de transferência

Escolha o tipo de classificação

7 resultados

Endocytosis of lysosomal alpha-galactosidase A by cultured fibroblasts from patients with Fabry disease.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

The endocytosis of alpha-galactosidase A was studied in cultured fibroblasts from patients with Fabry disease. Alpha-galactosidase A was purified from human placenta by chromatography on concanavalin A-Sepharose, DEAE-cellulose, and N-epsilon-aminocaproyl-alpha-D-galactosylamine-Sepharose.

Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

Angiokeratoma corporis diffusum (Fabry disease) is an X-linked recessive disease. We had an opportunity to examine a heterozygous female patient with angiokeratoma and cornea verticillata. The patient's serum alpha-galactosidase activity was reported to be about 50% of normal. Skin lesion biopsy

Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp).

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

We generated iPS cells from human dermal fibroblasts (HDFs) of Fabry disease using a Sendai virus (SeVdp) vector; this method has been established by Nakanishi et al. for pathogenic evaluation. We received SeVdp vector from Nakanishi and loaded it simultaneously with four reprogramming factors

Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

BACKGROUND Fabry disease is characterized by deficient expression/activity of α-GalA with consequent lysosomal accumulation in various organs of its substrate Gb3. Despite enzyme replacement therapy, Fabry disease progresses with serious myocardial, cerebral and renal manifestations. Gb3

Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

The authors describe two cases of clinical Fabry's disease. The first patient presents a deficiency of alpha galactosidase and a urinary excretion of ceramide trihexosides and dihexosides ; the second patient had a normal alpha galactosidase and normal excretion of urinary lipids. In this latter

Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

For inborn errors of metabolism, high resolution melting analysis (HRMA) is a rapid, efficient, simple, and inexpensive method for mutation/rare variant screening. HRMA is a recent molecular technique for genotyping single-nucleotide polymorphisms without using probes. Here we apply HRMA to the

Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.

Apenas usuários registrados podem traduzir artigos

Entrar Inscrever-se

For the purpose of evaluating electron microscopy of tissue culture in making the diagnosis of sphingolipidoses, an ultrastructural study was made on the cultured fibroblasts from 23 patients with the disorders. The characteristic cytoplasmic inclusions were observed in the cultured cells of Fabry

Junte-se à nossa
página do facebook

Herbal & Natural Medicine

O mais completo banco de dados de ervas medicinais apoiado pela ciência

Funciona em 55 idiomas
Curas herbais apoiadas pela ciência
Reconhecimento de ervas por imagem
Mapa GPS interativo - marcar ervas no local (em breve)
Leia publicações científicas relacionadas à sua pesquisa
Pesquise ervas medicinais por seus efeitos
Organize seus interesses e mantenha-se atualizado com as notícias de pesquisa, testes clínicos e patentes

Digite um sintoma ou doença e leia sobre ervas que podem ajudar, digite uma erva e veja as doenças e sintomas contra os quais ela é usada.
* Todas as informações são baseadas em pesquisas científicas publicadas