Search Results - "Vilaseca Busca, A"

Management of phenylketonuria in Europe: Survey results from 19 countries by Blau, Nenad, Bélanger-Quintana, Amaya, Demirkol, Mübeccel, Feillet, François, Giovannini, Marcello, MacDonald, Anita, Trefz, Friedrich K., Spronsen, Francjan van

“…To gain better insight in the most current diagnosis and treatment practices for phenylketonuria (PKU) from a broad group of experts, a European PKU survey was…”
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Abnormal antioxidant system in inborn errors of intermediary metabolism by Vilaseca-Buscà, M A, Artuch-Iriberri, R, Colomé-Mallolas, C, Brandi-Tarrau, N, Campistol, J, Pineda- Marfá, M, Sierra-March, C

“…Oxidative stress may be implied in the pathogenic mechanisms of inborn errors of intermediary metabolism (IEIM). The evaluation of the antioxidant status in…”
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Homocystinuria: effectiveness of the treatment with pyridoxine, folic acid, and betaine by Montero Brens, C, Dalmau Serra, J, Cabello Tomás, M L, García Gómez, A M, Rodes Monegal, M, Vilaseca Busca, A

“…We present the results achieved with vitamin (pyridoxine and folic acid) and betaine (trimethyl-glycine) treatment of three patients with homocystinuria. Cases…”
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Cobalamin deficiency causing megaloblastic anemia by Díaz Conradi, A, Ruggeri Rodríguez, N, Massaguer Cabrera, J, Vilaseca Buscà, Ma A, Artuch Iriberri, R, Englert Granell, E

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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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Anemia megaloblástica por déficit nutricional by Díaz Conradi, A., Ruggeri Rodríguez, N., Massaguer Cabrera, J., Vilaseca Buscà, M.ªA., Artuch Iriberri, R., Englert Granell, E.

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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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The neonatal form of propionic acidemia by Figueras Aloy, J, Ribes Rubio, A, Vilaseca Busca, M A, Lluch Mir, M, Brines Godino, P, Jiménez González, R, Cruz Hernández, M

“…A neonatal form of propionic acidemia is reported. Diagnosis was made by gas chromatography, mass spectrometry and urine excretion of 3-hydroxy-propionate and…”
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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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Alteraciones del sistema antioxidante en errores congénitos del metabolismo intermediario by Vilaseca Buscà, Maria Antònia, Artuch Iriberri, Rafael, Colomé Mallolas, Catrina, Brandi Tarrau, Núria, Campistol Plana, Jaume, Pineda Marfà, Mercè, Sierra March, Cristina

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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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Proposed protocol for the study of cerebrovascular disease in childhood by Cardo Jalón, E, Pineda Marfà, M, Artuch Iriberri, R, Vilaseca Buscà, M A, Campistol Plana, J

“…The etiology of cerebrovascular disease in the paediatric population, remains unknown in up to 40% of the cases ("idiopathic"), but recent advances could…”
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Evolution of a case of tyrosinemia type I treated with NTBC by Ros Viladoms, J, Vilaseca Buscà, M A, Lambruschini Ferri, N, Mas Comas, A, González Pascual, E, Holme, E

“…Tyrosinemia type I is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetase activity. Treatment with…”
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Embryonic pathology caused by maternal phenylketonuria. A cause of underdiagnosed mental retardation. A report of 8 cases by Campistol Plana, J, Arellano Pedrola, M, Poo Argüelles, P, Escofet Sotera, C, Pérez Olarte, P, Vilaseca Buscà, M A

“…Maternal phenylketonuria (MPKU) is characterized by intrauterine growth retardation, microcephaly, congenital malformations (mainly cardiac defects),…”
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Hyperhomocystinemia and 677C T methylenetetrahydrofolate reductase polymorphism as a cardiovascular risk factor in childhood by Mainou Cid, C, García Giralt, N, Vilaseca Buscà, M A, Ferrer Codina, I, Meco López, José F, Mainou Pintó, A, Pintó Sala, X, Grinberg Vaisman, D, Balcells Comas, S

“…Factors related to hyperhomocystinemia in the pediatric population of our geographical area with a parental history of premature coronary disease (PCD) are not…”
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Cobalamin deficiency causing megaloblastic anemia by Díaz Conradi, A, Ruggeri Rodríguez, N, Massaguer Cabrera, J, Vilaseca Buscà, Ma A, Artuch Iriberri, R, Englert Granell, E

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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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