angiokeratoma/fever

Холбоосыг санах ойд хадгалдаг

НийтлэлЭмнэл зүйн туршилтПатент

Эрэмбэлэх төрлийг сонгоно уу

14 үр дүн

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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].

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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].

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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].

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

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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Herbal & Natural Medicine

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