alpha galactosidase/turse

Link salvestatakse lõikelauale

ArtiklidKliinilistes uuringutesPatendid

Valige sortimise tüüp

10 tulemused

Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

A 34-year-old Japanese male had leg pain, edema of the legs, hypohidrosis, whorl-like opacities of the bilateral cornea, bilateral subcapsular cataracts, and chest discomfort on exercise. He had no characteristic angiokeratomas but did have telangiectases. The electrocardiogram revealed high

Anderson-Fabry disease: a multiorgan disease.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A. FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (Fig. 2), including the skin, kidneys, nervous system, and

Fabry disease: recognition and management of cutaneous manifestations.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Fabry disease (angiokeratoma corporis diffusum universale) is a rare, X chromosome-linked lysosomal storage disease. The deficient enzyme, alpha-galactosidase A (alpha-gal A), is responsible for the accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs,

Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed.

Generalized anhidrosis associated with Fabry's disease.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

A 28-year-old Korean man suffered from generalized acquired anhidrosis and heat intolerance that were confirmed by a sweat test. Other clinical features consistent with Fabry's disease were fever and severe pain of the lower extremities and leg edema. Although the patients lacked cutaneous

Clinical and molecular characterization of an extended family with Fabry disease.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

OBJECTIVE To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. METHODS Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present

Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene, followed by deficiency in α-galactosidase A (α-gal) activity. Nephrotic syndrome, as the renal phenotype of FD, is unusual. Here, we report the rare case of a patient with FD with

Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the α-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria

Post-transplant de-novo renal phospholipidosis in a kidney transplant recipient: Fabry disease or something else?

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Renal phospholipidosis is a rare cause of proteinuria and kidney dysfunction. We describe a kidney transplant recipient who presented with slowly rising serum creatinine, nephrotic range proteinuria, and lower extremity edema 10 years post transplant. He was diagnosed with renal phospholipidosis on

[Two cases of heterozygous Fabry disease].

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

We report two cases of heterozygous Fabry disease with severe organ damage. Case 1 was a 47-year-old woman. In April 1977, at the age of 27 years, she had proteinuria and edema around the 26th week of her second pregnancy and was diagnosed as toxicosis of pregnancy. She had proteinuria after the

Liitu meie
facebooki lehega

Herbal & Natural Medicine

Kõige täiuslikum ravimtaimede andmebaas, mida toetab teadus

Töötab 55 keeles
Taimsed ravimid, mida toetab teadus
Maitsetaimede äratundmine pildi järgi
Interaktiivne GPS-kaart - märgistage ürdid asukohas (varsti)
Lugege oma otsinguga seotud teaduspublikatsioone
Otsige ravimtaimi nende mõju järgi
Korraldage oma huvisid ja hoidke end kursis uudisteuuringute, kliiniliste uuringute ja patentidega

Sisestage sümptom või haigus ja lugege ravimtaimede kohta, mis võivad aidata, tippige ürdi ja vaadake haigusi ja sümptomeid, mille vastu seda kasutatakse.
* Kogu teave põhineb avaldatud teaduslikel uuringutel