alpha galactosidase/versterkte bloedingsneiging

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Action of alpha-galactosidase from Clostridium sporogenes and coffee beans on blood group B antigen of erythrocytes. The effect on the viability of erythrocytes in circulation.

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The effect of alpha-galactosidase, purified from Clostridium sporogenes (Maebashi), was examined on erythrocytes from rats, rabbits and gibbons. The amount of galactose released by alpha-galactosidase from Cl. sporogenes and from coffee beans was compared. The amount of sialic acid released by

Unusual case of subarachnoid haemorrhage in patient with Fabry's disease: case report and literature review.

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Fabry's disease is a rare, X linked recessive disease affecting 1 in 40 000 persons. The symptoms result from a lack of or a non-functioning enzyme α galactosidase, which leads to globotriaosylceramide accumulation in the walls of blood vessels. Mortality is generally from cardiac or renal

Cerebral hemorrhage in a paucisymptomatic young patient with Fabry disease.

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Fabry disease is an inborn error of glycosphingolipid catabolism caused by deficient activity of the lysosomal exoglycohydrolase α-galactosidase A. It has an X-linked inheritance and occurs in all ethnic groups, with an incidence of 1 in 40,000 in the general population. The incidence of

Pig xenogeneic antigen modification with green coffee bean alpha-galactosidase.

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Green coffee bean alpha-galactosidase can cleave the terminal alpha-galactose (alphaGal) on oligosaccharides that form the major antigen on pig endothelial cells recognized by primate-specific antibodies. Studies have been made of the conditions under which it is functional (e.g. temperature, pH)

Cerebral hemorrhage in Fabry's disease.

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Fabry's disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency. Although ischemic stroke is recognized as an important manifestation of Fabry's disease, hemorrhagic stroke is considered to be rare. Here, we report our recent clinical experience with three

Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.

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BACKGROUND Fabry disease is an X-linked lysosomal storage disorder caused by mutations in GLA, which encodes the enzyme α-galactosidase A (α-Gal A). Although the prevalence of Fabry disease in patients with stroke has been reported to range from 0% to 4%, few cohort studies have examined Japanese

Cerebrovascular complications of Fabry's disease.

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Fabry's disease (FD) is a rare, sex-linked disorder resulting from alpha-galactosidase deficiency. Cerebrovascular complications have been reported in the literature but have not been systematically analyzed. We report 2 patients and review 51 previously reported cases (descriptive meta-analysis) to

Rapid detection and identification of Brachyspira aalborgi from rectal biopsies and faeces of a patient.

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This study reports for the first time the detection of Brachyspira aalborgi in faeces and rectal biopsies of a female suffering for 3-4 months of abdominal pain with long-standing mucosal diarrhoea, rectal bleeding and suspected carcinoma of the rectum. After pre-treatment of samples (faeces and

[Skin manifestations with internal diseases. Finding the origin].

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Inspection of the skin in its entirety often turns up initial and orientating symptoms allowing the early detection of internal disorders. For example, the painful ulcerations of pyoderma gangrenosum can provide clues as to the presence of underlying inflammatory bowel or joint or hematologic

The heart in Anderson Fabry disease.

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Anderson Fabry disease is a life threatening, X-linked inborn metabolic defect of the lysosomal enzyme áalpha-galactosidase A. The deficiency of alpha-galactosidase A leads to a progressive accumulation of globotriaosylceramide (Gb(3)), the major glycosphingolipid substrate of the enzyme, within

The Prevalence of Fabry Disease Among Young Cryptogenic Stroke Patients

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Introduction Fabry disease is a metabolic storage disorder that causes disorders in multiple organs including the brain. Data regarding the prevalence of the disease among the Saudi stroke population is scarce. Hence, tests for the same are not conducted on a regular basis when investigating stroke

Fabry's disease: a prospective multicenter cohort study in young adults with cryptogenic stroke.

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BACKGROUND Stroke in young adults is etiologically diverse and may represent a diagnostic challenge remaining cryptogenic in one-fourth of cases. Limited information is available on the prevalence of Fabry's disease, a treatable multisystem inherited lysosomal storage disorder, and disability in

Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.

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BACKGROUND Fabry disease is a rare metabolic glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A--leading to cellular accumulation of globotriasylceramide in different organs, vessels, tissues, and nerves. The disease is associated with an increased risk

Seven Years of Experiences of Preclinical Experiments of Xeno-Heart Transplantation of Pig to Non-Human Primate (Cynomolgus Monkey).

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BACKGROUND The absolute shortage of donors compared with patients requiring transplantation is currently an unsolved problem, and the only possible solution may be xenotransplantation. To establish a successful clinical trial, a preclinical study using nonhuman primates is essential. Starting in

Atypical Fabry's disease presenting with cholesterol crystal embolization.

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We describe a 65-year-old man who presented with pulmonary hemorrhage and progressive renal insufficiency three months after resection surgery for an abdominal aortic aneurysm. Intensive treatment with corticosteroids and hemodialysis were not effective, and the patient died. Postmortem examination

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