Stratification of Fabry mutations in clinical practice: a closer look at &#945;-galactosidase A-3D structure.

Rickert, V; Wagenhäuser, L; Nordbeck, P; Wanner, C; Sommer, C; Rost, S; Üçeyler, N

Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.

Rickert, V; Wagenhäuser, L; Nordbeck, P; Wanner, C; Sommer, C; Rost, S; Üçeyler, N.

Afiliación

Rickert V; From the, Department of Neurology, University of Würzburg, Würzburg, Germany.
Wagenhäuser L; From the, Department of Neurology, University of Würzburg, Würzburg, Germany.
Nordbeck P; Fabry Centre for Interdisciplinary Therapy Würzburg (FAZIT), University of Würzburg, Würzburg, Germany.
Wanner C; Department of Internal Medicine, Division of Cardiology, University of Würzburg, Würzburg, Germany.
Sommer C; Fabry Centre for Interdisciplinary Therapy Würzburg (FAZIT), University of Würzburg, Würzburg, Germany.
Rost S; Department of Internal Medicine, Division of Nephrology, University of Würzburg, Würzburg, Germany.
Üçeyler N; From the, Department of Neurology, University of Würzburg, Würzburg, Germany.

J Intern Med ; 288(5): 593-604, 2020 11.

Article en En | MEDLINE | ID: mdl-32583479

Asunto(s)

Enfermedad de Fabry/genética; alfa-Galactosidasa/genética; Enfermedad de Fabry/complicaciones; Enfermedad de Fabry/diagnóstico; Enfermedad de Fabry/enzimología; Humanos; Conformación Molecular; Mutación Missense

Palabras clave

Fabry disease; Fabry genotype; Fabry phenotype; lyso-Gb3; α-GalA 3D-structure

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Alfa-Galactosidasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Intern Med Asunto de la revista: MEDICINA INTERNA Año: 2020 Tipo del documento: Article País de afiliación: Alemania

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