Angiokeratoma corporis diffusum - Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy

Fabry, H

doi:10.1080/080352502762457824

Cited by 6 publications

(3 citation statements)

References 8 publications

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“…2 The consequences of these biochemical changes can be wide-ranging, and include acroparesthesias, hypohidrosis, angiokeratomas, corneal opacities, cerebrovascular lesions, cardiac disorders, and renal dysfunction. 1,3 Organ dysfunction and pain are usually the first clinical manifestations of Fabry disease and, at this stage, some degree of irreversible damage may already have occurred. The onset of symptoms generally starts during childhood and, by middle-age, life-threatening complications often develop in untreated patients.…”

Section: Introductionmentioning

confidence: 99%

“…2 Life expectancy is reduced by ~20 years in untreated men and by ~15 years in untreated women. 3,5 The cause of mortality in female patients is usually cardiac failure, whereas renal failure is the most frequent cause of death in male patients. 3 In the recent past, organ transplantation and dialysis have increased the longevity of patients with Fabry disease, and this has resulted in an increased prevalence of cardiac and cerebrovascular events in these patients.…”

Section: Introductionmentioning

confidence: 99%

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Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)

Tsuboi

Yamamoto

2012

Genetics in Medicine

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Purpose:Fabry disease is a rare, X-linked, inherited lysosomal storage disorder that can be treated with the enzymes agalsidase alfa (Replagal) and agalsidase beta (Fabrazyme). Currently, there is a global shortage of agalsidase beta, and this has increased global demand for agalsidase alfa. We assess the feasibility of switching patients on agalsidase beta treatment to agalsidase alfa instead.Methods:This analysis is part of an ongoing observational study involving 11 patients with Fabry disease in whom the treatment was switched from agalsidase beta (1 mg/kg every other week) to agalsidase alfa (0.2 mg/kg every other week). Data were collected for a minimum of 36 months: 24 months before and 12 months after the switch. Serial data were evaluated with respect to renal function, cardiac mass, pain, quality of life, and tolerability/safety.Results:Indexes of renal function (estimated glomerular filtration rate) and cardiac mass (left-ventricular mass index), pain (Brief Pain Inventory), and quality of life (EuroQoL-Dimensions) clearly showed that, in patients switched to agalsidase alfa, Fabry disease stabilized during the 12 months of follow-up.Conclusion:Despite the limitations of this preliminary observational study, it was found that all the patients maintained disease stability when treated with agalsidase alfa, as evidenced by estimated glomerular filtration rate, left-ventricular mass index, pain scores, and quality-of-life indexes, throughout 12 months of follow-up.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)

Tsuboi

Yamamoto

2012

Genetics in Medicine

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“…FD is a rare X-linked hereditary metabolic storage disorder caused by genetic abnormalities, which leads to an enzymatic deficiency [1] resulting in the accumulation of excessive quantities of one class of lipids, the sphingolipids, globotriaosylceramide (Gb3) being the most prevalent in FD patients [2]. Although the usual onset of the first symptoms is in childhood, by middle-age, life-threatening complications are often developed in untreated patients [3].…”

Section: Introductionmentioning

confidence: 99%

Automatic Lane Segmentation in TLC Images Using the Continuous Wavelet Transform

Moreira

Sousa

Mendonça

et al. 2013

Computational and Mathematical Methods in Medicine

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This paper describes a new methodology for lane detection in Thin-Layer Chromatography images. An approach based on the continuous wavelet transform is used to enhance the relevant lane information contained in the intensity profile obtained from image data projection. Lane detection proceeds in three phases: the first obtains a set of candidate lanes, which are validated or removed in the second phase; in the third phase, lane limits are calculated, and subtle lanes are recovered. The superior performance of the new solution was confirmed by a comparison with three other methodologies previously described in the literature.

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Anderson-Fabry Disease

Hauser

2008

Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Angiokeratoma corporis diffusum - Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy

Cited by 6 publications

References 8 publications

Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)

Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)

Automatic Lane Segmentation in TLC Images Using the Continuous Wavelet Transform

Anderson-Fabry Disease

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