Síndrome de Reye-like como manifestación inicial de enfermedad mitocondrial
Quintillá Martínez, J.M., Campistol Plana, J., Boleda Vall-Llobera, M.D., Vilaseca Buscà, M.A., Artuch Iriberri, R., Palomeque Rico, A., Briones Godino, P., Ribes Rubio, A.
Published in Anales de pediatría (Barcelona, Spain : 2003) (2000)
Published in Anales de pediatría (Barcelona, Spain : 2003) (2000)
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Journal Article
Phenylalanine metabolites in hyperphenylalaninemic children
Alvarez Domínguez, L, Campistol Plana, J, Ribes Rubio, A, Riverola de Vecina, A T
Published in Anales españoles de pediatría (01.05.1992)
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Published in Anales españoles de pediatría (01.05.1992)
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The neonatal form of propionic acidemia
Figueras Aloy, J, Ribes Rubio, A, Vilaseca Busca, M A, Lluch Mir, M, Brines Godino, P, Jiménez González, R, Cruz Hernández, M
Published in Anales españoles de pediatría (01.12.1988)
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Published in Anales españoles de pediatría (01.12.1988)
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Reye-like syndrome as initial manifestation of mitochondrial disease
Quintillá Martínez, J M, Campistol Plana, J, Boleda Vall-Llobera, M D, Vilaseca Buscà, M A, Artuch Iriberri, R, Palomeque Rico, A, Briones Godino, P, Ribes Rubio, A
Published in Anales españoles de pediatría (01.05.2000)
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Published in Anales españoles de pediatría (01.05.2000)
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Glutaric aciduria type I
Prats Viñas, J M, Ribes Rubio, M A, Briones Godino, M P, Garaizar Axpe, C, Sanjurjo Crespo, P
Published in Anales españoles de pediatría (01.04.1993)
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Published in Anales españoles de pediatría (01.04.1993)
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Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency
Yeste Fernández, D, Castelló Girona, F, Mora Graupera, J, Riudor Taravila, E, Arranz Amo, J, Ribes Rubió, A, Pérez Cerdá, C
Published in Anales españoles de pediatría (01.06.1996)
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Published in Anales españoles de pediatría (01.06.1996)
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Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria
Rogé Canales, M, Rodrigo Gonzalo de Liria, C, Prats Viñas, L J, Vaquero Pérez, M, Ribes Rubió, A, Rodés Monegal, M, Pintos Morell, G
Published in Anales españoles de pediatría (01.07.1996)
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Published in Anales españoles de pediatría (01.07.1996)
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Bicalutamide analogs or (s)-bi calutam ide as exocytosis activating compounds for use in the treatment of a lysosomal storage disorder or glycogenosis
Farrera-Sinfreu Josep, Matalonga Borrel Leslie, Ponsati Obiols Berta, Ferrer Montiel Antonio, Pascual Martinez Roberto, Gort Mas Laura, Ribes Rubio Antonia
Year of Publication 03.08.2016
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Year of Publication 03.08.2016
Patent
BICALUTAMIDE ANALOGS OR (S)-BICALUTAMIDE AS EXOCYTOSIS ACTIVATING COMPOUNDS FOR USE IN THE TREATMENT OF A LYSOSOMAL STORAGE DISORDER OR GLYCOGENOSIS
FERRER MONTIEL ANTONIO, RIBES RUBIO ANTONIA, FARRERA SINFREU JOSEP, MATALONGA BORREL LESLIE, PASCUAL MARTINEZ ROBERTO, PONSATI OBIOLS BERTA, GORT MAS LAURA
Year of Publication 10.08.2016
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Year of Publication 10.08.2016
Patent