alpha galactosidase/hnačka

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The effect of oral alpha-galactosidase on intestinal gas production and gas-related symptoms.

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Bloating, abdominal distention, and flatulence represent very frequent complaints in functional disorders but their pathophysiology and treatment are largely unknown. Patients frequently associate these symptoms with excessive intestinal gas and the reduction of gas production may represent an

Prevalence of Serpulina species in relation to diarrhea and feed medication in pig-rearing herds in Sweden.

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OBJECTIVE To determine prevalence of various pheno- and genotypes of Serpulina sp in young pigs in relation to diarrhea and feed medication in Swedish pig-rearing herds. METHODS Isolation of spirochetes. Phenotypical and genotypical classification. METHODS Young pigs (n = 358) in 19 pigrearing

Does oral α-galactosidase relieve irritable bowel symptoms?

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OBJECTIVE Abdominal bloating is reported by a majority of irritable bowel syndrome (IBS) patients. Excess colonic fermentation may cause gaseous symptoms. Several foodstuffs contain oligosaccharides with an α-galactosidic linkage that is resistant to mammalian hydrolases. Assisted hydrolysis by

[The diagnosis of swine dysentery and spirochaete diarrhea. 1. Cultural-biochemical differentiation of intestinal Serpulina in routine diagnosis].

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Frequent incidence of Serpulina strains showing all cultural and biochemical characteristics of Serpulina (S.) hyodysenteriae except of being indole negative, and alpha-galactosidase positive isolates showing strong haemolysis on Columbia agar with 5% sheep blood and trypticase soy agar with 5% ox

Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options.

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A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias,

Fabry disease simulating Crohn's ileitis.

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Fabry disease is an inherited (X-linked) lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to accumulation of globotriaosylceramide in various tissues. A 57-year-old male with a family history and laboratory findings of Fabry disease, was consulted for severe abdominal

The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease

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Fabry disease (FD) is an X-linked lysosomal disorder caused by mutations in GLA gene resulting in lack of or faulty α-galactosidase A (α-GalA) enzyme. Enzyme replacement therapy (ERT) with recombinant human α-GalA enzyme (agalsidase) is the standard treatment option for FD. Infusion-related

Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy.

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Gastrointestinal symptoms are often an early and prominent manifestation of Fabry disease, an X-linked inborn error of metabolism caused by the deficient activity of the lysosomal enzyme, alpha-galactosidase A. This enzyme deficiency results in the progressive accumulation of globotriaosylceramide

[Fabry's disease and hypoparathyroidism].

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BACKGROUND Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs. METHODS A 19-year-old man with known hypoparathyroidism presented with

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

Classification of Brachyspira spp. isolated from Swedish dogs.

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Brachyspira spp. were isolated from 21 of 32 sampled dogs (66%) in a colony of Swedish beagle dogs with a history of diarrhea and from 3 of 17 Swedish pet dogs (17%) with diarrhea. All Swedish isolates were weakly beta-hemolytic and gave a negative indole reaction. Eighty-eight percent showed

[Clinical courses of two male siblings on hemodialysis for Fabry disease ].

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Fabry disease is an X-linked recessive disease resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, hypohidrosis, corneal opacities, and dysfunction of the heart, brain, and kidney are observed. Recently,

Oxidative Stress and Cardiovascular-Renal Damage in Fabry Disease: Is There Room for a Pathophysiological Involvement?

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Fabry disease is an X-linked lysosomal storage disease caused by mutations in the GLA gene that lead to a reduction or an absence of the enzyme α-galactosidase A, resulting in the progressive and multisystemic accumulation of globotriaosylceramide. Clinical manifestation varies from mild to severe,

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

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Outcomes in patients with Fabry disease receiving migalastat during the phase 3 FACETS trial (NCT00925301) were evaluated by phenotype.

METHODS

Data were evaluated in two subgroups of patients with migalastat-amenable GLA variants: "classic

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

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BACKGROUND Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes. METHODS The

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