alpha galactosidase/asthenia

Länken sparas på Urklipp

ArtiklarKliniska testerPatent

Välj sorteringstyp

8 resultat

[A case of acroparesthesias, asthenia and fever. A new mutation in Fabry's disease].

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

Fabry disease is an X-linked hereditary metabolic storage disorder, due to the deficiency in lysosomal alpha-galactosidase A, with the consequent glycosphingolipids accumulation, primarily globotriaosylceramide, at cellular level. Multiorganic involvement occurs progressively, leading to severe

A case of Fabry disease (alpha-galactosidase A deficiency).

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

Fabry disease is a rare lipid storage disorder, often silent until adulthood. We report the case of a rural, primary care patient whose initial presentation was that of progressive weakness from anemia. The anemia was determined to be of renal origin, and led to a diagnosis of Fabry disease.

Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

A 30 year-old male patient with a history of Fabry's disease, was referred to hospital with symptoms of dizziness, hypotension and weakness. Fabry's disease had been diagnosed 2 years before, based on angiokeratoma and hypohidrosis on physical examination and complete lack of alpha-galactosidase A

Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

This report describes a third mucopolysaccharidosis in animals: canine mucopolysaccharidosis VII. The affected dog was the offspring of a father-daughter mating. Weakness in the rear legs was evident at 8 weeks of age and became progressively worse. He had a large head, a shortened maxilla, and

Fabry disease presenting as bilateral medial medullary infarction with a "heart appearance" sign: a case report.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

The etiologic determinants of cryptogenic stroke remain a diagnostic challenge in clinical practice. Fabry disease (FD) is one of the monogenic causes of stroke that may remain unrecognized as a potential contributing causative factor, because of its rarity and difficulty in diagnosis.

[The clinical characteristics of 5 patients with inherited hypertrophic cardiomyopathy].

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

OBJECTIVE To explore the clinical characteristics of patients with inherited hypertrophic cardiomyopathy. METHODS The clinical characteristics, electrocardiogram, serum chemistry and diagnostic methods were retrospectively investigated in 5 patients with inherited hypertrophic

Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

Both Fabry disease and Duchenne muscular dystrophy were confirmed by gene analysis in a Japanese boy. He developed muscle weakness at 4 years of age. A muscle biopsy revealed lamellar inclusion bodies in vascular endothelial cells in addition to myopathic changes with negative dystrophin staining.

Chloroquine-induced lipidosis mimicking Fabry disease.

Endast registrerade användare kan översätta artiklar

Logga in Bli medlem

Intracellular accumulation of phospholipids may be a consequence of inherited or acquired metabolic disorders. In Fabry disease, deficiency of alpha-galactosidase A results in storage of globotriasylceramide in numerous cells including endothelium, striated muscle (skeletal, cardiac), smooth muscle,

Gå med på vår
facebook-sida

Herbal & Natural Medicine

Den mest kompletta databasen med medicinska örter som stöds av vetenskapen

Fungerar på 55 språk
Växtbaserade botemedel som stöds av vetenskap
Örter igenkänning av bild
Interaktiv GPS-karta - märka örter på plats (kommer snart)
Läs vetenskapliga publikationer relaterade till din sökning
Sök efter medicinska örter efter deras effekter
Organisera dina intressen och håll dig uppdaterad med nyheterna, kliniska prövningar och patent

Skriv ett symptom eller en sjukdom och läs om örter som kan hjälpa, skriv en ört och se sjukdomar och symtom den används mot.
* All information baseras på publicerad vetenskaplig forskning