Elisenda Cortès-Saladelafont

7PUBLICATIONS
44CO-AUTHORS
Major global burdens of diseaseMedical genetics (excl. cancer genetics)Disease surveillanceGenetic immunologyNeurology and neuromuscular diseases
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Publications (7)

|Nov 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek

|Apr 12, 2025
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Elena Martín-Hernández, Marcello Bellusci, Patricia Pérez-Mohand

|Mar 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella

|Mar 29, 2023
Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse.

Elisenda Cortés-Saladelafont, Julián Fernández-Martín, Saida Ortolano

|Jul 14, 2022
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.

Natalia Juliá-Palacios, Cristina Molina-Anguita, María Sigatulina Bondarenko

|May 26, 2022
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

Oya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella

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Frequent Collaborators

3 joint publications

Thomas Opladen

2 joint publications

Oya Kuseyri Hübschmann

2 joint publications

Natalia Juliá-Palacios

2 joint publications

Gabriella Horvath