Description of a Spanish child cohort of SLC6A1-related neurodevelopmental disorder and efficacy/safety of the treatment with Glycerol Phenylbutyrate

SSRN Electronic Journal 2026 Preprint Open access

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Authors: Asunción Díaz-Gómez, Virgínia Ballesteros Cogollos, Itxaso Martí-Carrera, Rocío Calvo Medina, Gemma Aznar Laín, Eulalia Turón‐Viñas, Andrea Campo Barasoain, Lamagrande Casanova, José Luis Cuevas Cervera, Teresa de Jesús Bermejo, Rebeca Losada del Pozo, Montserrat Pons Rodríguez
+2 more Ignacio Malaga Dieguez, Alvaro Beltrán Corbellini
DOI: 10.2139/ssrn.6027767
Cited by: 1

Fields of Study & Subjects

Metabolism and Genetic Disorders Diet and metabolism studies Amino Acid Enzymes and Metabolism

Publication details

Journal / source
SSRN Electronic Journal
Publisher
Elsevier BV
Publication date
1 January 2026
Document type
Preprint