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Elisenda Cortès‐Saladelafont

Observed names: Cortès i Saladelafont, Elisenda, Cortès-Saladelafont, E, Cortès-Saladelafont, Elisenda, E Cortès Saladelafont, E. Cortes I. Saladelafont, E. Cortès-Saladelafont, E. Cortès‐Saladelafont, E. Cortés, E. Cortés-Saladelafont, Elisenda Cortès Saladelafont, Elisenda Cortès i Saladelafont, Elisenda Cortès-Saladelafont, Elisenda Cortés-Saladelafont
Observed institutions: Universitat Autònoma de Barcelona, Hospital Sant Joan de Déu Barcelona, Washington University in St. Louis, Instituto de Salud Carlos III, University of Belgrade, Hospital Son Llatzer, Instituto Maimónides de Investigación Biomédica de Córdoba, Complejo Hospitalario Universitario de Santiago, Centre for Biomedical Network Research on Rare Diseases, Institut za zdravstvenu zaštitu majke i deteta Srbije "Dr Vukan Čupić", Hospital Universitario Reina Sofía, Hospital Universitari Germans Trias i Pujol, Institut de Recerca Sant Joan de Déu, University College London
ORCID: 0000-0002-8604-2230
Observed ORCID: 0000-0002-8604-2230
OpenAlex ID: A5088234026
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
2015 · Stefan Kölker, Angeles Garcia Cazorla, et al. · Journal of Inherited Metabolic Disease · 252
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
2015 · Stefan Kölker, Vassili Valayannopoulos, et al. · Journal of Inherited Metabolic Disease · 239
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
2020 · on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD), Thomas Opladen, et al. · Orphanet Journal of Rare Diseases · 179
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Impact of age at onset and newborn screening on outcome in organic acidurias
2015 · Jana Heringer, Vassili Valayannopoulos, et al. · Journal of Inherited Metabolic Disease · 89
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
2016 · Roland Posset, Angeles Garcia‐Cazorla, et al. · Journal of Inherited Metabolic Disease · 75
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
2016 · Thomas Opladen, Elisenda Cortès-Saladelafont, et al. · Molecular Genetics and Metabolism Reports · 64
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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
2021 · Oya Kuseyri Hübschmann, Gabriella Horvath, et al. · Nature Communications · 50
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia
2020 · Joanne Ng, Elisenda Cortès‐Saladelafont, et al. · Movement Disorders · 47
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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective
2020 · Mohamed A. Elmonem, Amaya Belanger-Quintana, et al. · Molecular Genetics and Metabolism · 45
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Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
2019 · Femke Molema, Florian Gleich, et al. · Molecular Genetics and Metabolism · 37
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Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
2020 · Thomas Opladen, Eduardo López-Laso, et al. · Orphanet Journal of Rare Diseases · 27
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From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
2020 · Matthias Zielonka, Sven F. Garbade, et al. · Human Mutation · 27
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Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse
2023 · Elisenda Cortés-Saladelafont, Julián Fernández-Martín, et al. · International Journal of Molecular Sciences · 26
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Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial‐peroxisomal protein
2017 · H. Díez, E. Cortès‐Saladelafont, et al. · Movement Disorders · 25
The ethical framework for performing research with rare inherited neurometabolic disease patients
2017 · Viviana Giannuzzi, Hugo Devlieger, et al. · European Journal of Pediatrics · 25
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Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission
2016 · E. Cortès-Saladelafont, A. Tristán-Noguero, et al. · Seminars in Pediatric Neurology · 25
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
2015 · Linda Cassis, Elisenda Cortès-Saladelafont, et al. · Orphanet Journal of Rare Diseases · 24
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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
2020 · Roland Posset, Sven F. Garbade, et al. · Scientific Reports · 23
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Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
2021 · Oya Kuseyri Hübschmann, Alexander Mohr, et al. · Journal of Inherited Metabolic Disease · 20
Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle
2018 · Elisenda Cortès‐Saladelafont, Noa Lipstein, et al. · Journal of Inherited Metabolic Disease · 18
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
2015 · Stefan Kölker, Angeles Garcia Cazorla, et al. · Journal of Inherited Metabolic Disease · 18
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
2021 · Pilar Quijada-Fraile, Elena Arranz Canales, et al. · Orphanet Journal of Rare Diseases · 17
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An Integrative Approach to Predict Phenotypic Severity in Nonketotic Hyperglycinemia
2021 · Oya Kuseyri Hübschmann, Natalia Alexandra Juliá‐Palacios, et al. · Annals of Neurology · 17
Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency
2013 · C. Ortez, C. Jou, et al. · Gene · 17
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
2022 · Natalia Juliá‐Palacios, Cristina Molina‐Anguita, et al. · Developmental Medicine & Child Neurology · 15
Works count: 58
Citation count: 1,525
H-index: 19
I10-index: 31
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