Associated Papers
Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.
Tejedor JR et al.
Journal of Inherited Metabolic Disease, 2025
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Cortès-Saladelafont E et al.
Developmental Medicine and Child Neurology, 2018
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
27243974 (PubMed )
Supplement: pone.0156359.s002.xlsx › general_
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
Couce ML et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P et al.
Human Mutation, 2006
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