alpha galactosidase/palavik

Link salvestatakse lõikelauale

ArtiklidKliinilistes uuringutesPatendid

Valige sortimise tüüp

Leht 1 alates 34 tulemused

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

BACKGROUND Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme, which leads to the accumulation of its substrate, the globotriaosylceramide or Gb3, in many organs and tissues. Main clinical manifestations of FD are neuropathic pain,

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

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

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

Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Anderson-Fabry's disease (AFD) is a rare, X-linked lysosomal storage disorder caused by the complete deficiency or attenuated activity of the enzyme α-galactosidase A, leading to progressive systemic intracellular accumulation of glycosphingolipids and subsequent cellular dysfunction,

Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage

Recurrent fever of unknown origin: An overlooked symptom of Fabry disease

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Objective: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to the absent or deficient activity of lysosomal hydrolase a-galactosidase A (α-Gal A), which leads to the accumulation of its substrates in various organs

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF). We examined the Mediterranean fever (MEFV) and α-galactosidase A (GLA) genes, whose mutations are responsible for FMF

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected patients have microvascular disease of the kidneys, heart, and brain. We evaluated the safety and effectiveness of recombinant

A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Fabry disease can cause various neurological manifestations. We describe the case of a Japanese woman with Fabry disease who presented with ischemic stroke, aseptic meningitis, and psychiatric symptoms. The patient had a mutation in intron 4 of her α-galactosidase A gene, which was not detected in

Fabry's disease--a case report and review of literatures reported in Korea.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(alpha)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal alpha galactose moieties (i.e., cerebroside di- and

Agalsidase alfa: a review of its use in the management of Fabry disease.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

The enzyme replacement therapy agalsidase alfa (Replagal®) has an amino acid sequence identical to that of native α-galactosidase A; intravenous agalsidase alfa 0.2 mg/kg every other week is indicated for the long-term treatment of patients with confirmed Fabry disease. This article reviews the

A rare association between Fabry's disease and granulomatosis with polyangiitis: a potential pathogenic link.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

BACKGROUND Fabry's disease is a rare X-linked, hereditary lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A. Granulomatosis with polyangiitis is characterized by the involvement of the respiratory tract and kidneys. Here, we report the first case of the coexistence of

Priapism and Fabry disease: a case report.

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

A 10-year-old boy presented with priapism of 10 h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A 4-year history of intermittent vague aching of fingers and toes accompanied by low-grade fever was reported. Fabry disease was confirmed by the lack

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

[Priapism associated with Fabry's disease].

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

We present a rare case of priapism in a child, ten years old, in association with Fabry's disease. The child had a history of disseminated nodular enlargement, crises of fever, intermittent pain in the extremities and ten hours persistent painful erection of the penis. We don't obtain pain or

[Early diagnosis of Fabry disease in children].

Ainult registreeritud kasutajad saavad artikleid tõlkida

Logi sisse

Fabry disease, a rare X-linked lysosomal storage disorder, is caused by deficiency of the enzyme α-galactosidase A. The incidence, ranging from one over 40 000 to one over 11 7000 worldwide is probably underestimated due to its unspecific pattern of presentation. The symptoms, including

Eelmine
1
2
3
Järgmine

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