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Journal of Inherited Metabolic Disease
|
September 21, 2010
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
Elisa De Grandis, Mercedes Serrano, Belén Pérez-Dueñas, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2015
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content
Claudio Asencio, María A Rodríguez-Hernandez, Paz Briones, et al.
BMC Pediatrics
|
November 9, 2014
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
Delia Yubero, Mar O'Callaghan, Raquel Montero, et al.
Mitochondrion
|
April 16, 2016
Ndufs4 related Leigh syndrome: A case report and review of the literature
Juan Darío Ortigoza-Escobar, Alfonso Oyarzabal, Raquel Montero, et al.
Journal of Inherited Metabolic Disease
|
April 19, 2011
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients
María-Socorro Pérez-Poyato, Montserrat Milà Recansens, Isidre Ferrer Abizanda, et al.
Frontiers in Genetics
|
August 19, 2015
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
Sara Brito, Kyle Thompson, Jaume Campistol, et al.
Frontiers in Genetics
|
April 9, 2015
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
Sara Brito, Kyle Thompson, Jaume Campistol, et al.
Journal of Inherited Metabolic Disease
|
July 6, 2018
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.
Plos One
|
April 23, 2025
Shedding new light on the context and temporality of Iberian warrior stelae: The Cañaveral de León 2 Stela and Las Capellanías burial complex (Huelva, SW Spain)
Leonardo García Sanjuán, Timoteo Rivera-Jiménez, Marta Díaz-Guardamino, et al.
JIMD Reports
|
July 25, 2015
Coenzyme Q<sub>10</sub> and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
Dèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 55) with videos related to
Sort By:
Page
of 6
Journal of Inherited Metabolic Disease
|
September 21, 2010
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
Elisa De Grandis, Mercedes Serrano, Belén Pérez-Dueñas, et al.
European Journal of Human Genetics : EJHG
|
May 28, 2015
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content
Claudio Asencio, María A Rodríguez-Hernandez, Paz Briones, et al.
BMC Pediatrics
|
November 9, 2014
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
Delia Yubero, Mar O'Callaghan, Raquel Montero, et al.
Mitochondrion
|
April 16, 2016
Ndufs4 related Leigh syndrome: A case report and review of the literature
Juan Darío Ortigoza-Escobar, Alfonso Oyarzabal, Raquel Montero, et al.
Journal of Inherited Metabolic Disease
|
April 19, 2011
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients
María-Socorro Pérez-Poyato, Montserrat Milà Recansens, Isidre Ferrer Abizanda, et al.
Frontiers in Genetics
|
August 19, 2015
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
Sara Brito, Kyle Thompson, Jaume Campistol, et al.
Frontiers in Genetics
|
April 9, 2015
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
Sara Brito, Kyle Thompson, Jaume Campistol, et al.
Journal of Inherited Metabolic Disease
|
July 6, 2018
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.
Plos One
|
April 23, 2025
Shedding new light on the context and temporality of Iberian warrior stelae: The Cañaveral de León 2 Stela and Las Capellanías burial complex (Huelva, SW Spain)
Leonardo García Sanjuán, Timoteo Rivera-Jiménez, Marta Díaz-Guardamino, et al.
JIMD Reports
|
July 25, 2015
Coenzyme Q<sub>10</sub> and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
Dèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.
Page
of 6