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The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of amino acid metabolism, with unique clinico‐radiological findings. This study aims to show the benefit of using the clinico‐radiological findings for early diagnosis of children with MSUD, and confirming this diagn...

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Detalles Bibliográficos
Autores principales: Mohamed, Montaser M., Bakheet, Mohamed A., Magdy, Rofaida M., El‐Abd, Heba S., Alam‐Eldeen, Mohamad Hasan, Abo‐Haded, Hany M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580081/
https://www.ncbi.nlm.nih.gov/pubmed/34432377
http://dx.doi.org/10.1002/mgg3.1790