Search Results - "Rodes Monegal, M"

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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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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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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Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria by Rogé Canales, M, Rodrigo Gonzalo de Liria, C, Prats Viñas, L J, Vaquero Pérez, M, Ribes Rubió, A, Rodés Monegal, M, Pintos Morell, G

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