Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

AIM: The aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I). METHODS: An international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed r...

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Detalles Bibliográficos
Autores principales: Tylki‐Szymańska, Anna, De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Parini, Rossella, Wijburg, Frits A., Zeman, Jiri, Scarpa, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Regular Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055821/
https://www.ncbi.nlm.nih.gov/pubmed/29797470
http://dx.doi.org/10.1111/apa.14417

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055821/
https://www.ncbi.nlm.nih.gov/pubmed/29797470
http://dx.doi.org/10.1111/apa.14417

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