A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report
González-Tarancón, R., Salvador-Rupérez, E., Goñi-Ros, N., Álvarez, S. Izquierdo, Sánchez-Navarro, I., García, M. Martínez, Segura, J. L. Peña, Lafuente, A. López
Published in Egyptian Journal of Medical Human Genetics (05.03.2022)
Published in Egyptian Journal of Medical Human Genetics (05.03.2022)
Get full text
Journal Article
Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin
Mañú Pereira, M, Gelbart, T, Ristoff, E, Crain, K C, Bergua, J M, López Lafuente, A, Kalko, S G, García Mateos, E, Beutler, E, Vives Corrons, J L
Published in Haematologica (Roma) (01.11.2007)
Published in Haematologica (Roma) (01.11.2007)
Get full text
Journal Article
Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to {gamma}-glutamylcysteine synthetase deficiency in a patient of Moroccan origin
Manu Pereira, M, Gelbart, T, Ristoff, E, Crain, K.C, Bergua, J.M, Lopez Lafuente, A, Kalko, S.G, Garcia Mateos, E, Beutler, E, Vives Corrons, J.L
Published in Haematologica (Roma) (01.11.2007)
Published in Haematologica (Roma) (01.11.2007)
Get full text
Journal Article
Cerebellar astrocytoma and asperger syndrome
Hernández Cristóbal, J., Dorado Moles, M.J., Lopéz Lafuente, A., Campos-Castelló, J.
Published in European journal of paediatric neurology (1999)
Published in European journal of paediatric neurology (1999)
Get full text
Journal Article
A study of primary school teachers' knowledge of attention deficit hyperactivity disorder
Lopez-Lopez, A, Lopez-Lafuente, A, Eiris-Punal, J, Mulas, F, Cardo, E, Grupo de Trabajo Tdah de la Sociedad Espanola de Neuropediatria, Grupo de Trabajo Tdah de la Sociedad Espanola de Neuropediatria
Published in Revista de neurologia (01.03.2018)
Get full text
Published in Revista de neurologia (01.03.2018)
Journal Article
Conference Proceeding
Variability in the treatment of headaches in visits to the Neuropaediatrics service at six Spanish hospitals
Tomás-Vila, M, García-Perez, A, Martínez-Granero, M A, Aleu Pérez-Gramunt, M, Martínez-Menéndez, B, Martínez-Sarries, F J, López-Lafuente, A, Benac-Prefaci, M
Published in Revista de neurologiá (01.07.2005)
Published in Revista de neurologiá (01.07.2005)
Get full text
Journal Article
Perinatal intracranial hemorrhage due to immune thrombocytopenia
López-Lafuente, A, Campistol, J, Toll, M T, Iriondo, M
Published in Revista de neurologiá (16.11.1999)
Published in Revista de neurologiá (16.11.1999)
Get full text
Journal Article
Familial MECP2 duplication syndrome
Gutiérrez-Sánchez, A M, Marín-Andrés, M, López-Lafuente, A, Monge-Galindo, L, López-Pisón, J, Peña-Segura, J L
Published in Revista de neurologiá (16.04.2020)
Published in Revista de neurologiá (16.04.2020)
Get full text
Journal Article
Neurofibromatosis 1 y cavernomatosis múltiple familiar en un lactante con sialorrea profusa episódica
Sánchez Marco, Silvia Beatriz, Monge Galindo, Lorena, López Pisón, Javier, García Jiménez, Inmaculada, Peña Segura, José Luis, López Lafuente, Amparo
Published in Revista de neurologiá (2019)
Published in Revista de neurologiá (2019)
Get full text
Journal Article