alpha galactosidase/atrofi

Tautan disimpan ke clipboard

Pilih jenis pengurutan

Halaman 1 dari 59 hasil

Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

BACKGROUND Mutations in the gene for alpha-galactosidase A result in Fabry disease, a rare, X-linked lysosomal storage disorder characterized by a loss of alpha-galactosidase A enzymatic activity. The resultant accumulation of glycosphingolipids throughout the body leads to widespread vasculopathy

Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

We report a case of kidney transplantation from mother to son, both of whom were likely to have had an unrecognized renal variant phenotype of Fabry disease. The patient was a 54-year-old man, with an unknown primary cause of end stage renal disease. He had no notable past medical history, other

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later-onset one. To investigate the biochemical

[A novel alpha-galactosidase from Arthrobacter sp. GN14 isolated from Grus nigricollis feces: gene cloning, heterologous expression and characterization].

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

OBJECTIVE Cloning and heterologously expressing the alpha-galactosidase gene (agaAGN14) from Arthrobacter sp. GN14 isolated from feces of black-neck crane (Grus nigricollis). METHODS The full-length agaAGN14 was cloned based on degenerate PCR and GC TAIL-PCR (thermal asymmetric interlaced PCR),

Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal alpha-galactosidase A [EC 3.2.1.22]. The molecular diagnosis of Fabry disease is important for genotype/phenotype correlation, pre-natal or early diagnosis, and detection of carrier status. Although more than 200 genotypes

Development and Analytical Characterization of Pegunigalsidase Alfa, a Chemically Cross-Linked Plant Recombinant Human α-Galactosidase-A for Treatment of Fabry Disease.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

The current treatment of Fabry disease by enzyme replacement therapy with commercially available recombinant human α-Galactosidase A shows a continuous deterioration of the disease patients. Human recombinant α-Galactosidase A is a homodimer with noncovalently bound subunits and is expressed in the

A thermostable alpha-galactosidase from Lactobacillus fermentum CRL722: genetic characterization and main properties.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Alpha-galactosidase (alpha-Gal) enzyme, which is encoded by the melA gene hydrolyzes alpha-1,6 galactoside linkages found in sugars, such as raffinose and stachyose. These alpha-galacto-oligosaccharides (alpha-GOS), which are found in large quantities in vegetables, such as soy, can cause

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Fabry disease is an X-linked lysosomal storage disease afflicting 1 in 40,000 males with chronic pain, vascular degeneration, cardiac impairment, and other symptoms. Deficiency in the lysosomal enzyme alpha-galactosidase (alpha-GAL) causes an accumulation of its substrate, which ultimately leads to

Paricalcitol as an Antiproteinuric Agent Can Result in the Deterioration of Renal and Heart Function in a Patient with Fabry Disease.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

BACKGROUND Fabry disease is a rare and progressive X-linked inherited disorder of glycosphingolipid metabolism that is due to deficient or absent lysosomal a-galactosidase A activity. Among its other associated signs and symptoms, patients present with renal failure and proteinuria, which are

Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

BACKGROUND A high incidence of GLA IVS4+919 G>A mutation in patients with Fabry disease of the later-onset cardiac phenotype, has been reported in Taiwan. However, suitable biomarkers or potential therapeutic surrogates for Fabry cardiomyopathy (FC) in such patients under enzyme replacement

[Fabry's disease: a comparison of the effectiveness of two different enzyme replacement therapies].

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

BACKGROUND Anderson-Fabry disease (AFD) is a multiorgan X-linked lysosomal storage disease that particularly affects the heart, kidneys, and cerebrovascular system. Current treatment is with enzyme replacement therapy (ERT), using either beta-galactosidase ('Fabrazyme') or alpha-galactosidase

Home infusion program for Fabry disease: experience with agalsidase alfa in Argentina.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Fabry disease is an X-linked lysosomal storage disorder caused by inherited deficiency of the enzyme a-galactosidase A. Enzyme replacement treatment using agalsidase alfa significantly reduces pain, improves cardiac function and quality of life, and slows renal deterioration. Nevertheless, it is a

Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by beta-glucuronidase (GUSB) deficiency. This disease exhibits a broad spectrum of clinical signs including skeletal dysplasia, retinal degeneration, cognitive deficits and hearing impairment. Sustained, high-level

The co-existence of Fabry and celiac diseases: a case report.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

We present a patient with Fabry disease with remarkable diagnostic findings and gluten-sensitive enteropathy. An 11-year-old girl was admitted to hospital with weight loss, anorexia, nausea, vomiting, flank pain, acroparesthesia, and painful extremities. Her mother had end-stage renal failure

HIV-2 derived lentiviral vectors: gene transfer in Parkinson's and Fabry disease models in vitro.

Hanya pengguna terdaftar yang dapat menerjemahkan artikel

Masuk daftar

Lentiviral vectors are prime candidate vectors for gene transfer into dividing and non-dividing cells, including neuronal cells and stem cells. For safety, HIV-2 lentiviral vectors may be better suited for gene transfer in humans than HIV-1 lentiviral vectors. HIV-2 vectors cross-packaged in HIV-1

Sebelumnya
1
2
3
4
Lanjut

Bergabunglah dengan
halaman facebook kami

Herbal & Natural Medicine

Database tanaman obat terlengkap yang didukung oleh sains

Bekerja dalam 55 bahasa
Pengobatan herbal didukung oleh sains
Pengenalan herbal melalui gambar
Peta GPS interaktif - beri tag herba di lokasi (segera hadir)
Baca publikasi ilmiah yang terkait dengan pencarian Anda
Cari tanaman obat berdasarkan efeknya
Atur minat Anda dan ikuti perkembangan berita, uji klinis, dan paten

Ketikkan gejala atau penyakit dan baca tentang jamu yang mungkin membantu, ketik jamu dan lihat penyakit dan gejala yang digunakan untuk melawannya.
* Semua informasi didasarkan pada penelitian ilmiah yang dipublikasikan