Search Results - "Ceberio Hualde, Leticia"

Tratamiento de la encefalopatía por ácido valproico con ácido carbaglúmico: descripción de dos casos y revisión de la bibliografía by Nava Mateos, Juan José, Roiz Rey, Patricia, Díaz Álvarez-Mediavilla, Jorge, Cebrián Novella, Diego, Gómez del Olmo, Vicente, Ceberio Hualde, Leticia

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Long-term safety and efficacy of DTX301 in adults with late-onset ornithine transcarbamylase (OTC) deficiency: A Phase 1/2 trial by Thomas, Janet, Tan, Wen-Hann, Khan, Aneal, Konczal, Laura, Breilyn, Margo Sheck, Hualde, Leticia Ceberio, Couce, Marie Luz, Geberhiwot, Tarekegn, Guffon, Nathalie, Harding, Cary, Patra, Kaushik, Merritt, J. Lawrence, Crombez, Eric

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Pearls & Oy-sters: Challenges and Controversies in Wilson Disease by Ruiz-Lopez, Marta, Moreno Estébanez, Ana, Tijero, Beatriz, Fernandez, Tamara, Rebollo-Perez, Alba, Gabilondo, Iñigo, Lopez-Osle, Nuria, Ceberio-Hualde, Leticia, Zarranz, Juan Jose, Gomez-Esteban, Juan Carlos

“…Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the gene, which are inherited in an autosomal recessive pattern. Despite…”
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Pearls & Oy-sters: Challenges and Controversies in Wilson Disease by Ruiz-Lopez, Marta, Moreno Estébanez, Ana, Tijero, Beatriz, Fernandez, Tamara, Rebollo-Perez, Alba, Gabilondo, Iñigo, Lopez-Osle, Nuria, Ceberio-Hualde, Leticia, Zarranz, Juan Jose, Gomez-Esteban, Juan Carlos

“…Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the ATP7B gene, which are inherited in an autosomal recessive pattern…”
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Clinical characteristics of patients with lysosomal diseases in a Spanish cohort of 499 adult patients with inborn errors of metabolism from university hospitals by Pérez-López, Jordi, Ceberio-Hualde, Leticia, García-Morillo, José Salvador, Grau-Junyent, Josep Maria, Hermida-Ameijeiras, Alvaro, López-Rodríguez, Mónica, Milisenda, José César, Moltó-Abad, Marc, Morales-Conejo, Montse, Mateos, Juan José Nava

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Treatment of encephalopathy by means of valproic acid with carglumic acid: two case reports and a review of the literature by Nava-Mateos, J J, Roiz-Rey, P, Diaz Alvarez-Mediavilla, J, Cebrian-Novella, D, Gomez-Del Olmo, V, Ceberio-Hualde, L

“…Valproic acid (VPA) is a drug mainly used to treat epilepsy. Hyperammonaemic encephalopathy due to VPA is a rare but serious complication. The mechanism by…”
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Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement by Pérez-López, Jordi, Ceberio-Hualde, Leticia, García Morillo, José Salvador, Grau-Junyent, Josep M, Hermida Ameijeiras, Álvaro, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Nava Mateos, Juan José, Aldámiz Echevarri Azuara, Luis José, Campistol, Jaume, Couce, M Luz, García-Silva, María Teresa, González Gutiérrez-Solana, Luis, Del Toro, Mireia

“…The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such…”
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Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement by Pérez-López, Jordi, Ceberio-Hualde, Leticia, García Morillo, José Salvador, Grau-Junyent, Josep M., Hermida Ameijeiras, Álvaro, López-Rodríguez, Mónica, Morales-Conejo, Montserrat, Nava Mateos, Juan José, Aldámiz Echevarri Azuara, Luis José, Campistol, Jaume, Couce, M. Luz, García-Silva, María Teresa, González Gutiérrez-Solana, Luis, del Toro, Mireia

“…The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such…”
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Réplica by Nava Mateos, Juan José, Roiz Rey, Patricia, Díaz Álvarez-Mediavilla, Jorge, Cebrián Novella, Diego, Gómez del Olmo, Vicente, Ceberio Hualde, Leticia

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