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Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures
Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder. An enzyme complex called branched-chain alpha-keto acid dehydrogenase (BCKAD) metabolizes branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, in the body. The deficiency of this enzyme causes the accumu...
Autores principales: | K K, Harshyenee, Ajmera, Pranav, Agarwal, Aastha, Dahiya, Ajay, Parripati, Vinay Kumar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10363028/ https://www.ncbi.nlm.nih.gov/pubmed/37489218 http://dx.doi.org/10.7759/cureus.40826 |
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