Fabry disease: a review of current management strategies. - Wikidata - wikimedia - TriplyDB

Fabry disease: a review of current management strategies.

Fabry disease: a review of current management strategies.

http://www.wikidata.org/entity/Q37775790

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Paediatric Fabry disease Agalsidase alfa: a review of its use in the management of Fabry disease Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Munster Study (FaMuS) data Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naïve Fabry disease patients.Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group Clinical course of patients with Fabry disease who were switched from agalsidase-β to agalsidase-α FabryScan: a screening tool for early detection of Fabry disease.Prevalence of Raynaud phenomenon and nailfold capillaroscopic abnormalities in Fabry disease: a cross-sectional study Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.Update on role of agalsidase alfa in management of Fabry disease.A disproportionate contribution of papillary muscles and trabeculations to total left ventricular mass makes choice of cardiovascular magnetic resonance analysis technique critical in Fabry disease Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene Innate and Adaptive Immune Response in Fabry Disease Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ).Gastrointestinal Symptoms of Patients with Fabry Disease.Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease.Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients.Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey.A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.Clinical neurogenetics: neuropathic lysosomal storage disorders.Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD).Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.Fabry's disease: an example of cardiorenal syndrome type 5.The role of imaging in the diagnosis and management of hypertrophic cardiomyopathy.Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease.Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.Enzyme enhancers for the treatment of Fabry and Pompe disease.Clinical-Pathological Conference Series from the Medical University of Graz : Case No 153: A 55-year-old woman with atypical multiple sclerosis and irritable bowel syndrome.Diagnostic dilemma and delay in Fabry disease: insights from a case series of young female patients.Fabry's disease: a prospective multicenter cohort study in young adults with cryptogenic stroke.Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.Late-onset Fabry disease associated with angiokeratoma of Fordyce and multiple cherry angiomas.Pseudoacromegalic facial features in Fabry disease.

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Fabry disease: a review of current management strategies.

http://www.wikidata.org/entity/Q37775790

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 21 July 2010

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vedecký článok

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vetenskaplig artikel

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vědecký článek

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name

Fabry disease: a review of current management strategies.

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Fabry disease: a review of current management strategies.

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type

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Fabry disease: a review of current management strategies.

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Fabry disease: a review of current management strategies.

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prefLabel

Fabry disease: a review of current management strategies.

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Fabry disease: a review of current management strategies.

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QJM: An International Journal of Medicine

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Fabry disease: a review of current management strategies.

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A Mehta

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A Rivera

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A Rolfs

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C Feliciani

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D P Germain

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F Eyskens

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I Kantola

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M Beck

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S Waldek

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U Ramaswami

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P2860

Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

Gene action in the X-chromosome of the mouse (Mus musculus L.)

Fabry disease: recognition and management of cutaneous manifestations.

Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).

Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey.

Hearing loss in Fabry disease: data from the Fabry Outcome Survey.

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641-659

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10.1093/QJMED/HCQ117

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