An historical overview of Fabry disease

Fabry, Hermann

doi:10.1023/a:1012443001449

Cited by 17 publications

(6 citation statements)

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“…Difference Fourier maps also clearly showed additional off-axis nuclear density (Model 1 in Table 2). The same observation was previously made for other hexagonal glaseritetype materials and ascribed to librational movement of tetrahedral groups, e.g., K3Na(SeO4)2 17,18 , K3Na(MoO4)2 19 , K3Na(RuO4)2 and Rb3Na(RuO4 )2 20 .…”

Section: Room Temperature Neutron Powder Diffraction Hexagonal Structuresupporting

confidence: 82%

“…or C2/m (√3ahex, ahex, chex, ~90°), 18,19,30,31 , Ba3MnSi2O8 appears to undergo a single phase transition via the two-dimensional irreducible representation A3+, which allows a continuous P-3m1-C2/c transformation. That is also consistent with A3+ being the primary distortion mode associated with the inplane displacement of apical O1 atoms, as discussed above.…”

Section: Variable Temperature Neutron Powder Diffraction Data Monocli...mentioning

confidence: 99%

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Crystal structure and monoclinic distortion of glaserite-type Ba3MnSi2O8

Avdeev

Xia

Sale

et al. 2018

Journal of Solid State Chemistry

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Section: Room Temperature Neutron Powder Diffraction Hexagonal Structuresupporting

confidence: 82%

Section: Variable Temperature Neutron Powder Diffraction Data Monocli...mentioning

confidence: 99%

Crystal structure and monoclinic distortion of glaserite-type Ba3MnSi2O8

Avdeev

Xia

Sale

et al. 2018

Journal of Solid State Chemistry

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“…In 1898, the German physician Johannes Fabry and the British surgeon William Anderson independently of each other reported seeing patients with angiokeratoma, a classical skin lesion associated with the disease [8][9][10]. Back then, physicians lacked knowledge about the underlying causes for the dermatoses they were describing, and the meaning of additional symptoms were mostly unknown [11]. Hence, FD was initially considered a purely dermatological disorder.…”

Section: Historical Overviewmentioning

confidence: 99%

“…Fabry's patient had a paternal grandfather who passed away from "kidney trouble" at an age of 49 years, and the patient himself died of lung disease at 44 years of age. The average life expectancy in the general population in the year 1900 was about 40 years [11]. In 1963 the mainly accumulated substance, Gb 3, was identified [12].…”

Section: Historical Overviewmentioning

confidence: 99%

Fabry Disease

Kåks¹,

Magnusson²

2021

Cardiomyopathy - Disease of the Heart Muscle

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Fabry disease (FD) is a lysosomal storage disorder where deficient or completely absent activity of the enzyme α-galactosidas A leads to accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in lysosomes. The condition is rare, approximately 1:50,000, although underdiagnosis seems frequent. The condition can affect multiple organ systems, including the skin, nervous system, kidneys, and heart. Early manifestations include skin lesions (angiokeratoma), neuropathic pain, and gastrointestinal symptoms. Later on, FD can result in cardiomyopathy, kidney failure, and stroke. Both lifespan and health-related quality of life are affected negatively by FD. Patients are divided into a classical or a non-classical phenotype based on presentation, where the diagnosis of classical FD requires that a set of specific criteria are met. Patients with non-classical FD often have a less severe disease course, sometimes limited to one organ. The hereditary pattern is X-linked. Thus, men are in general more severely affected than women, although there is an overlap in symptomatic burden. Two types of specific treatment options are available: enzyme replacement therapy and pharmacological chaperone therapy. In addition to this, management of each organ manifestation with usual treatment is indicated.

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“…Fabry disease is an X-chromosome-linked inherited lysosomal storage disorder resulting from partial to total deficiency of the lysosomal enzyme α-galactosidase A due to the lack of α-Gal A gene activity [ 1 , 2 , 3 ]. As a result, glycosphingolipids, mainly Globotriaosylceramide (GB3) accumulates to the tissues primarily in the central nervous system, cardiovascular system, renal system (especially kidney), skin, and muscle [ 1 , 2 , 4 , 5 ]. The progression of the disease may affect the normal regulatory function of brain, heart, kidney, and other organs, leading to high morbidity and mortality, low quality of life [ 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse

et al. 2018

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Fabry disease is a rare lysosomal storage disorder resulting from the lack of α-Gal A gene activity. Globotriaosylceramide (GB3, ceramide trihexoside) is a novel endogenous biomarker which predicts the incidence of Fabry disease. At the early stage efficacy/biomarker study, a rapid method to determine this biomarker in plasma and in all relevant tissues related to this disease simultaneously is required. However, the limited sample volume, as well as the various levels of GB3 in different matrices makes the GB3 quantitation very challenging. Hereby we developed a rapid method to identify GB3 in mouse plasma and various tissues. Preliminary stability tests were also performed in three different conditions: short-term, freeze-thaw, long-term. The calibration curve was well fitted over the concentration range of 0.042–10 μg/mL for GB3 in plasma and 0.082–20 μg/g for GB3 in various tissues. This method was successfully applied for the comparison of GB3 levels in Fabry model mice (B6;129-Glatm1Kul/J), which has not been performed previously to the best of our knowledge.

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An historical overview of Fabry disease

Cited by 17 publications

References 1 publication

Crystal structure and monoclinic distortion of glaserite-type Ba3MnSi2O8

Crystal structure and monoclinic distortion of glaserite-type Ba3MnSi2O8

Fabry Disease

A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse

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