Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations--different outcome?

Politei, J; Schenone, A B; Cabrera, G; Heguilen, R; Szlago, M

Politei, J; Schenone, A B; Cabrera, G; Heguilen, R; Szlago, M.

Affiliation

Politei J; Laboratorio Neuroquímica Dr Chamoles (FESEN), Buenos Aires, Argentina.
Schenone AB; Laboratorio Neuroquímica Dr Chamoles (FESEN), Buenos Aires, Argentina.
Cabrera G; Cardiology Department, Del Viso Medical Center, Buenos Aires, Argentina.
Heguilen R; Department of Nephrology, Juan Fernandez Hospital, Buenos Aires, Argentina.
Szlago M; Laboratorio Neuroquímica Dr Chamoles (FESEN), Buenos Aires, Argentina.

Clin Genet ; 89(1): 88-92, 2016 Jan.

Article in En | MEDLINE | ID: mdl-25817890

Subject(s)

Enzyme Replacement Therapy; Fabry Disease/drug therapy; Fabry Disease/genetics; Mutation; alpha-Galactosidase/genetics; alpha-Galactosidase/therapeutic use; Adolescent; Brain/metabolism; Brain/pathology; Chemistry, Pharmaceutical; Child; Codon; Exons; Fabry Disease/diagnosis; Female; Glomerular Filtration Rate; Humans; Magnetic Resonance Imaging; Male; Pain Measurement; Treatment Outcome; Young Adult; alpha-Galactosidase/chemistry

Key words

Fabry disease; agalsidade beta; agalsidase alfa; enzyme replacement therapy

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fabry Disease / Alpha-Galactosidase / Enzyme Replacement Therapy / Mutation Type of study: Diagnostic_studies / Guideline Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Clin Genet Year: 2016 Type: Article Affiliation country: Argentina

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