fabry disease/febră

Linkul este salvat în clipboard

ArticoleStudii cliniceBrevete

Alegeți tipul de sortare

Pagină 1 din 36 rezultate

Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.

Numai utilizatorii înregistrați pot traduce articole

Fever of unknown origin (FUO) is a rather rare clinical syndrome representing a major diagnostic challenge. The occurrence of more than three febrile attacks with fever-free intervals of variable duration during 6 months of observation has recently been proposed as a subcategory of FUO, Recurrent

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

Numai utilizatorii înregistrați pot traduce articole

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

Numai utilizatorii înregistrați pot traduce articole

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

A Case of Fabry Disease Presenting with Young Stroke and Fever.

Numai utilizatorii înregistrați pot traduce articole

Although it is known that Fabry disease should be included in the differential diagnosis of young stroke and fever of unknown origin, it has not been reported in the literature of stroke with fever as the presentation of Fabry disease. This is relevant because stroke with fever may misguide the

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

Numai utilizatorii înregistrați pot traduce articole

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

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

Numai utilizatorii înregistrați pot traduce articole

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 disease: a rare cause of Fever of unknown origin.

Numai utilizatorii înregistrați pot traduce articole

Relief of chronic burning pain in Fabry disease with neurotropin.

Numai utilizatorii înregistrați pot traduce articole

Neurotropin, an extract from the inflamed skin of vaccinia virus-inoculated rabbits, was effective in the relief of sharp or burning pain induced by pyrexia, hot weather, bathing, or exercise in 2 siblings with Fabry disease. Neither neurotropin nor carbamazepine mono-therapy relieved the episodic

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

Numai utilizatorii înregistrați pot traduce articole

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

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

Numai utilizatorii înregistrați pot traduce articole

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].

Numai utilizatorii înregistrați pot traduce articole

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

Priapism and Fabry disease: a case report.

Numai utilizatorii înregistrați pot traduce articole

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

[Early diagnosis of Fabry disease in children].

Numai utilizatorii înregistrați pot traduce articole

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

Fabry disease simulating Crohn's ileitis.

Numai utilizatorii înregistrați pot traduce articole

Fabry disease is an inherited (X-linked) lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to accumulation of globotriaosylceramide in various tissues. A 57-year-old male with a family history and laboratory findings of Fabry disease, was consulted for severe abdominal

The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease

Numai utilizatorii înregistrați pot traduce articole

Fabry disease (FD) is an X-linked lysosomal disorder caused by mutations in GLA gene resulting in lack of or faulty α-galactosidase A (α-GalA) enzyme. Enzyme replacement therapy (ERT) with recombinant human α-GalA enzyme (agalsidase) is the standard treatment option for FD. Infusion-related

Anterior
1
2
3
Următor →

Alăturați-vă paginii
noastre de facebook

Herbal & Natural Medicine

Cea mai completă bază de date cu plante medicinale susținută de știință

Funcționează în 55 de limbi
Cure pe bază de plante susținute de știință
Recunoașterea ierburilor după imagine
Harta GPS interactivă - etichetați ierburile în locație (în curând)
Citiți publicațiile științifice legate de căutarea dvs.
Căutați plante medicinale după efectele lor
Organizați-vă interesele și rămâneți la curent cu noutățile de cercetare, studiile clinice și brevetele

Tastați un simptom sau o boală și citiți despre plante care ar putea ajuta, tastați o plantă și vedeți boli și simptome împotriva cărora este folosit.
* Toate informațiile se bazează pe cercetări științifice publicate