Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. - Wikidata - awgldk - TriplyDB

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

http://www.wikidata.org/entity/Q36596408

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Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders Fabry disease, respiratory symptoms, and airway limitation - a systematic review Drug treatment of inborn errors of metabolism: a systematic review Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry Agalsidase alfa: a review of its use in the management of Fabry disease Angiokeratomas of Fabry successfully treated with intense pulsed light.The importance of medical interview with CKD patient in diagnoses of a family with Fabry disease.Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy Lipid profile in adult patients with Fabry disease - Ten-year follow up Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.Stroke and Fabry disease.Fabry disease - current treatment and new drug development.Successful management of enzyme replacement therapy in related fabry disease patients with severe adverse events by switching from agalsidase Beta (fabrazyme(®)) to agalsidase alfa (replagal (®)).Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications Update on role of agalsidase alfa in management of Fabry disease.Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy.Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.Foot process effacement with normal urinalysis in classic fabry disease.Agalsidase benefits renal histology in young patients with Fabry disease.Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT Novel therapeutic targets for the treatment of Fabry disease.Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.Pharmacokinetics, safety, and tolerability following single-dose migalastat hydrochloride (GR181413A/AT1001) in healthy male Japanese subjects Home-based infusion therapy for patients with Fabry disease.FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.Fabry disease in children and the effects of enzyme replacement treatment.Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey.Safety of agalsidase alfa in patients with Fabry disease under 7 years.Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy.Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.

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Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

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Genetics in Medicine

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P2860

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

Nucleotide sequence of the human alpha-galactosidase A gene

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

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

Fabry disease: recognition and management of cutaneous manifestations.

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease.

Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain

Enzyme replacement therapy in Fabry disease: a randomized controlled trial.

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