Search Results - "Briones Godino, P"

Familiar chronic progressive external ophthalmoplegia of mitochondrial origin by Pineda, M, Playán-Ariso, A, Alcaine-Villarroya, M J, Vernet, A M, Serra-Castanera, A, Solano, A, Vilaseca, M A, Artuch, R, López-Pérez, M, Briones-Godino, M P, Andreu, A, Montoya, J

“…The syndrome of chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by ptosis and ophthalmoplegia has that has been…”
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Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene by Blanco-Barca, O, Gomez-Lado, C, Rodrigo-Saez, E, Curros-Novos, C, Briones-Godino, P, Eiris-Punal, J, Castro-Gago, M

“…Pyruvate dehydrogenase (PDH) deficiency constitutes the most frequent metabolic origin of congenital lactic acidosis and is also responsible for a less usual…”
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Galactosemia: the genotype and phenotype of seven patients by Martins, E, Teixeira, J, Cardoso, M L, Lima, M R, Briones-Godino, P, Barbot, C

“…Despite early dietary therapy, many patients with galactosemia show a neurodegenerative disease specially evident in speech impairment and movement disorders…”
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Late-onset presentation of carbamoyl phosphate synthetase 1 deficiency in a 6-year-old boy by Gómez-López, L, Artuch, R, Vilaseca, M A, Briones-Godino, P, Finckh, U, Pineda, M

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Presentación tardía de una deficiencia de carbamilfosfato sintetasa 1 en un niño de 6 años by Gómez López, Lilianne, Artuch Iriberri, Rafael, Vilaseca Buscà, Maria Antònia, Briones Godino, Paz, Finckh, Ulrich, Pineda Marfà, Mercè

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Severe fulminant form of neonatal citrullinemia. Report of a case by Lalaguna-Mallada, P, García-Romero, R, Alonso-del Val, B, Rite-Gracia, S, Lopez-Pisón, J, Baldellou-Vázquez, A, Salazar García-Blanco, M I, Yus-Gotor, C, Briones-Godino, P, Marco-Tello, A, Rebage, V

“…Citrullinemia is an autosomal recessive disease, which is caused by a deficiency of the argininosuccinate synthetase. The neonatal forms are serious and many…”
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Galactosemia: genotipo y fenotipo de siete pacientes by Martins, Esmeralda, Teixeira, João F., Moral Westerman Cardoso, Maria Luís, Lima, Margarida Reis, Briones Godino, Paz, Barbot, Mª Clara

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Forma grave fulminante de citrulinemia neonatal. Comunicación de un caso by Lalaguna Mallada, Paula, García Romero, Ruth, Alonso del Val, Belinda, Rite Gracia, Segundo, López Pisón, Javier, Baldellou Vázquez, Antonio, Salazar García-Blanco, Mª Isabel, Yus Gotor, Carmen, Briones Godino, Paz, Marco Tello, Ángel, Rebage Moisés, Victor

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Síndrome de Reye-like como manifestación inicial de enfermedad mitocondrial by 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.

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Late-onset presentation of carbamoyl phosphate synthetase 1 deficiency in a 6-year-old boy by Gómez-López, L, Artuch, R, Vilaseca, M A, Briones-Godino, P, Finckh, U, Pineda, M

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Oftalmoplejía crónica progresiva externa familiar de origen mitocondrial by Pineda Marfà, Mercè, Playán Ariso, Ana, Alcaine Villarroya, María José, Vernet Bori, Ana María, Serra Castanera, A., Solano Palacios, Abelardo, Vilaseca Buscà, Maria Antònia, Artuch Iriberri, Rafael, López Pérez, Manuel José, Briones Godino, M. Paz, Andreu Périz, Antoni L., Montoya Villaroya, Julio

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Ornithine transcarbamylase deficiency. Biochemical studies in the diagnosis of 4 cases and the identification of carriers by Briones Godino, P, Vilaseca Busca, M A, Alvarez Dominguez, L, Rodes Monegal, M, Campistol Plana, J

“…The biochemical studies for the diagnosis of four cases of OCT deficiency are described: two male sibs, with total enzymatic deficiency and neonatal death, and…”
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Sudden death of a patient with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency by Vilaseca Busca, M A, Ribes Rubio, A, Briones Godino, P, Cusi Sánchez, V, Baraíbar Castelló, R, Gairi Taull, J M

“…A new case of neonatal 3-hydroxy-3-methylglutaric aciduria is described. 3-hydroxy-3-methylglutaryl CoA lyase activities in leukocytes demonstrated the…”
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Argininosuccinic aciduria. Comparative studies and detection of carriers in 3 affected families by Briones Godino, P, Rodes Monegal, M, Vilaseca Busca, M A, Maya Victoria, A, Lizárraga Vidaurreta, I, Barbero Aguirre, P, Pascual Castroviejo, I

“…Three patients with argininosuccinic aciduria are described. One of them is a neonatal form, with typical acute course and severe hyperammonemia who died on…”
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Reye-like syndrome as initial manifestation of mitochondrial disease by 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

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Glutaric aciduria type I by Prats Viñas, J M, Ribes Rubio, M A, Briones Godino, M P, Garaizar Axpe, C, Sanjurjo Crespo, P

“…We report three patients with glutaric aciduria type I. The biochemical diagnosis of two cases was revealed by determination of free glutaric acid in urine, by…”
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Pallister-Killian syndrome and 12p tetrasomy: increased LDH-B activity by Antich Femenias, J, Briones Godino, M P, Vilaseca Busca, M A, Girós Blasco, M L, Campos Castelló, J, Jaume Roig, B, Clusellas Casals, N

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