100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

Inherited metabolic disorders (IMDs) are a heterogeneous group of rare disorders characterized by disruption of metabolic pathways. To date, data on incidence and prevalence of IMDs are limited. Taking advantage of a functioning network within the Austrian metabolic group, our registry research aime...

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Detalles Bibliográficos
Autores principales: Ramoser, Gabriele, Caferri, Federica, Radlinger, Bernhard, Brunner‐Krainz, Michaela, Herbst, Sybille, Huemer, Martina, Hufgard‐Leitner, Miriam, Kircher, Susanne G., Konstantopoulou, Vassiliki, Löscher, Wolfgang, Möslinger, Dorothea, Plecko, Barbara, Spenger, Johannes, Stulnig, Thomas, Sunder‐Plassmann, Gere, Wortmann, Saskia, Scholl‐Bürgi, Sabine, Karall, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297958/
https://www.ncbi.nlm.nih.gov/pubmed/34595757
http://dx.doi.org/10.1002/jimd.12442

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