alpha galactosidase/koorts

De link wordt op het klembord opgeslagen

LidwoordKlinische proevenOctrooien

Kies het sorteertype

Bladzijde 1 van 34 resultaten

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

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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].

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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.

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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].

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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].

Alleen geregistreerde gebruikers kunnen artikelen vertalen

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

Vorige
1
2
3
De volgende

Word lid van onze
facebookpagina

Herbal & Natural Medicine

De meest complete database met geneeskrachtige kruiden, ondersteund door de wetenschap

Werkt in 55 talen
Kruidengeneesmiddelen gesteund door de wetenschap
Kruidenherkenning door beeld
Interactieve GPS-kaart - tag kruiden op locatie (binnenkort beschikbaar)
Lees wetenschappelijke publicaties met betrekking tot uw zoekopdracht
Zoek medicinale kruiden op hun effecten
Organiseer uw interesses en blijf op de hoogte van nieuwsonderzoek, klinische onderzoeken en patenten

Typ een symptoom of een ziekte en lees over kruiden die kunnen helpen, typ een kruid en zie ziekten en symptomen waartegen het wordt gebruikt.
* Alle informatie is gebaseerd op gepubliceerd wetenschappelijk onderzoek