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alpha galactosidase/πυρετός
Ο σύνδεσμος αποθηκεύεται στο πρόχειρο
Σελίδα 1 από 34 Αποτελέσματα
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
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Σύνδεση εγγραφή
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].
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Σύνδεση εγγραφή
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.
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Σύνδεση εγγραφή
Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.
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Σύνδεση εγγραφή
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
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Σύνδεση εγγραφή
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.
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Σύνδεση εγγραφή
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.
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Σύνδεση εγγραφή
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.
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Σύνδεση εγγραφή
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.
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Σύνδεση εγγραφή
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.
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Σύνδεση εγγραφή
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.
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Σύνδεση εγγραφή
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.
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Σύνδεση εγγραφή
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.
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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].
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Σύνδεση εγγραφή
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].
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Σύνδεση εγγραφή
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
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