Elisenda Cortès‐Saladelafont

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Roland Posset, Ángeles García‐Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2016 · 75 citations · Full text

Life Sciences, Neurology, Pediatrics +10

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Thomas Opladen, Elisenda Cortès‐Saladelafont, Mario Mastrangelo et al. · Molecular Genetics and Metabolism Reports · 2016 · 64 citations · Full text

Life Sciences, Neurology, Neuroscience +8

<scp><i>DNAJC6</i></scp> Mutations Disrupt Dopamine Homeostasis in Juvenile <scp>Parkinsonism‐Dystonia</scp>

Joanne Ng, Elisenda Cortès‐Saladelafont, Lucia Abela et al. · Movement Disorders · 2020 · 46 citations · Full text

Life Sciences, Genetics, Neurology +17

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

Mohamed A. Elmonem, Amaya Bélanger-Quintana, Andrea Bordugo et al. · Molecular Genetics and Metabolism · 2020 · 45 citations · Full text

Life Sciences, Health Sciences, Molecular Medicine +16

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Oya Kuseyri Hübschmann, Gabriella Horváth, Elisenda Cortès‐Saladelafont et al. · Nature Communications · 2021 · 42 citations · Full text

Medicine, Neuroscience, Pediatrics +17