Associated Papers
In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Fernández-Lainez C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
[Increased mortality and disability in a cohort of Mexican children with maple syrup urine disease].
Ibarra-González I et al.
Gaceta Medica De Mexico, 0
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