Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. - Wikidata - awgldk - TriplyDB

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

http://www.wikidata.org/entity/Q35065913

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Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice Long-term safety and efficacy of enzyme replacement therapy for Fabry disease Electrocardiographic Changes and Arrhythmia in Fabry Disease Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders Distribution of late gadolinium enhancement in various types of cardiomyopathies: Significance in differential diagnosis, clinical features and prognosis Agalsidase alfa: a review of its use in the management of Fabry disease A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy Temporal intradiploic dilative vasculopathy: an additional pathogenic factor for the hearing loss 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 Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study Corrective effect on Fabry mice of yeast recombinant human alpha-galactosidase with N-linked sugar chains suitable for lysosomal delivery.Systemic inflammatory diseases (SIDS), what's in a name.Angiokeratomas of Fabry successfully treated with intense pulsed light.Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease.The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Multi-system disorders of glycosphingolipid and ganglioside metabolism 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.Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity Stroke and Fabry disease.Excessive Daytime Sleepiness Is a Common Symptom in Fabry Disease.Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease Fabry disease - current treatment and new drug development.Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea Antiepileptic medications increase osteoporosis risk in male fabry patients: bone mineral density in an Australian cohort.Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.High incidence of later-onset fabry disease revealed by newborn screening 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 Hypertension in adult Fabry's disease: is cardiotrophin-1 a diagnostic biomarker?Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).Hypertrophic cardiomyopathy: a review Carboxyl-terminal truncations alter the activity of the human α-galactosidase A Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy.

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P2860

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

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2003 թվականի փետրվարին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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Allan J Collins

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Dominique P Germain

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Enzyme replacement therapy