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The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
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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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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
Recurrent fever of unknown origin: An overlooked symptom of Fabry disease
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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
[Fabry's disease: diagnosis in the pediatric age group].
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OBJECTIVE
Fabry's disease is the second most frequent alteration of glycosphingolipid lysosomal storage diseases (after Gaucher's disease). Typical symptomatology starts in the first decade of life. Neuropathic pain, gastrointestinal involvement with abdominal pain, vomiting and diarrhea and
Coexistence of Fabry's disease and necrotizing and crescentic glomerulonephritis.
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The coexistence of Fabry's disease, an X-linked hereditary disease, and other renal diseases, has rarely been described in the same patient. Combined Fabry's disease and pauci-immune necrotizing and crescentic glomerulonephritis (NCGN) is hitherto unreported. We present the clinical and pathologic
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
Fabry disease: treatment and diagnosis.
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Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme alpha-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical
[Fabry disease: demographic data since introduction of enzyme replacement therapy].
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OBJECTIVE
Fabry's disease is a rare, X-chromosome linked recessive lysosomal storage disorder. In its course multiple organ damage occurs, e.g. in skin, nerves, kidneys and heart. The disease not only markedly impairs the quality of life but also shortens life expectancy if untreated. As it is a
Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease.
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Anderson-Fabry disease (AFd) is a rare, inherited, x-linked disease characterized by the deficiency of the lysosomal enzymatic alpha-galactosidase A activity (alpha-Gal-A). The enzyme defect leads to progressive accumulation of glycosphingolipids (GL) in all kinds of cells, tissues, organs, and body
Natural history and treatment of uremia secondary to Fabry's disease: an European experience.
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Fabry's disease, a very unusual cause of end-stage renal disease, is actually included in the contraindications to renal transplantation. The few published studies, based on very few patients, report a high rate of life-threatening complications, mostly infectious, following kidney transplant in
Fabry disease: a review.
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Fabry disease is an inherited deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha GalA) due to mutations in the Gal gene at Xq22. The result is intralysosomal accumulation of glycosphingolipids. In males who carry the mutation (1/40,000), severe multisystem disease develops in
The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study.
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OBJECTIVE
Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack.
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OBJECTIVE
Cerebrovascular complications are often the first cause of hospitalization in patients with Fabry disease (FD). Screenings for FD among stroke patients have yielded discrepant results, likely as a result of heterogeneous or incomplete assessment. We designed a study to identify FD among
Misdiagnosis in Fabry disease.
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OBJECTIVE
To evaluate the most frequent diagnostic errors in patients with Fabry disease and the types of specialists most often consulted before diagnosis.
METHODS
We evaluated 45 consecutive symptomatic patients with Fabry disease confirmed by enzymatic tests in males and genetic studies in
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