Search Results - "Vilaseca, M A"

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas by Sarrión, P., Sangorrin, A., Urreizti, R., Delgado, A., Artuch, R., Martorell, L., Armstrong, J., Anton, J., Torner, F., Vilaseca, M. A., Nevado, J., Lapunzina, P., Asteggiano, C. G., Balcells, S., Grinberg, D.

“…Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have…”
Get full text

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency by Quintana, E, Gort, L, Busquets, C, Navarro-Sastre, A, Lissens, W, Moliner, S, Lluch, M, Vilaseca, MA, De Meirleir, L, Ribes, A, Briones, P

“…Quintana E, Gort L, Busquets C, Navarro‐Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P, PDH Working Group. Mutational…”
Get full text

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series by Pineda, M., Perez-Poyato, M.S., O’Callaghan, M., Vilaseca, M.A., Pocovi, M., Domingo, R., Ruiz Portal, L., Verdú Pérez, A., Temudo, T., Gaspar, A., Garcia Peñas, J.J., Roldán, S., Martín Fumero, L., Blanco de la Barca, O., García Silva, M.T., Macías-Vidal, J., Coll, M.J.

“…Niemann–Pick disease type C (NP-C) is an inherited neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration…”
Get full text

Arginine supplementation in four patients with X-linked creatine transporter defect by Fons, C, Sempere, A, Arias, A, López-Sala, A, Póo, P, Pineda, M, Mas, A, Vilaseca, M. A, Salomons, G. S, Ribes, A, Artuch, R, Campistol, J

“…Background Treatment with oral creatine monohydrate has not shown efficacy in patients with creatine transporter deficiency (CRTR-D). Another therapeutic…”
Get full text

X‐Linked creatine transporter deficiency in two patients with severe mental retardation and autism by Póo‐Argüelles, P., Arias, A., Vilaseca, M. A., Ribes, A., Artuch, R., Sans‐Fito, A., Moreno, A., Jakobs, C., Salomons, G.

“…Summary We describe the first two unrelated Spanish patients with creatine transporter deficiency initially identified by brain proton magnetic resonance…”
Get full text

Global and regional volume changes in the brains of patients with phenylketonuria by PEREZ-DUENAS, B, PUJOL, J, SORIANO-MAS, C, ORTIZ, H, ARTUCH, R, VILASECA, M. A, CAMPISTOL, J

“…Although phenylketonuria is a treatable disease, patients with late or nonoptimal phenylalanine-restricted diet may experience brain damage. The authors used…”
Get full text

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency by Urreizti, R, Moya-García, AA, Pino-Ángeles, A, Cozar, M, Langkilde, A, Fanhoe, U, Esteves, C, Arribas, J, Vilaseca, MA, Pérez-Dueñas, B, Pineda, M, González, V, Artuch, R, Baldellou, A, Vilarinho, L, Fowler, B, Ribes, A, Sánchez-Jiménez, F, Grinberg, D, Balcells, S

“…Urreizti R, Moya‐García AA, Pino‐ Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez‐Dueñas B, Pineda M, González V, Artuch R,…”
Get full text

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria by Espinós, C, Pineda, M, Martínez-Rubio, D, Lupo, V, Ormazabal, A, Vilaseca, M A, Spaapen, L J M, Palau, F, Artuch, R

“…Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p.L70P and p.R450C, in the…”
Get more information

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria by Espinós, C, García-Cazorla, A, Martínez-Rubio, D, Martínez-Martínez, E, Vilaseca, MA, Pérez-Dueñas, B, Kožich, V, Palau, F, Artuch, R

“…Espinós C, García‐Cazorla A, Martínez‐Rubio D, Martínez‐Martínez E, Vilaseca MA, Pérez‐Dueñas B, Kožich V, Palau F, Artuch R. Ancient origin of the CTH alelle…”
Get full text

Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders by Serrano, M., Ormazábal, A., Vilaseca, M.A., Lambruschini, N., Garcia-Romero, R., Meavilla, S., Perez-Dueñas, B., Pineda, M., Garcia-Cazorla, A., Campistol, J., Artuch, R.

“…To analyze the association between ammonia and glutamine used for metabolic control in inherited urea cycle disorders (UCD) in a large series of patients…”
Get full text

Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid by Ormazabal, A, Artuch, R, Vilaseca, M A, Aracil, A, Pineda, M

“…Previous studies in Rett syndrome (RS) patients suggested various abnormalities in biogenic amines, pterins, and folate values in cerebrospinal fluid (CSF)…”
Get more information

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency by Fons, C., Arias, A., Sempere, A., Póo, P., Pineda, M., Mas, A., López-Sala, A., Garcia-Villoria, J., Vilaseca, M.A., Ozaez, L., Lluch, M., Artuch, R., Campistol, J., Ribes, A.

“…Creatine transporter (CRTR) deficiency is one of the most frequent causes of X-linked mental retardation. The lack of an effective treatment for this disease,…”
Get full text

Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations by Pérez-Dueñas, B, García-Cazorla, A, Pineda, M, Poo, P, Campistol, J, Cusí, V, Schollen, E, Matthijs, G, Grunewald, S, Briones, P, Pérez-Cerdá, C, Artuch, R, Vilaseca, M.A

“…Abstract Congenital disorder of glycosylation Ia (CDG-Ia) is a metabolic disease with a broad spectrum of clinical signs, including recently described mild…”
Get full text

Plasma amino acids in anorexia nervosa by MOYANO, D, VILASECA, M. A, ARTUCH, R, LAMBRUSCHINI, N

“…To evaluate the amino acid profile in a group of adolescents with anorexia nervosa, and to apply alternative ways of presenting and assessing results, so as to…”
Get full text

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency by van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S

“…Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been…”
Get more information

Total homocysteine in pediatric patients by VILASECA, M. A, MOYANO, D, FERRER, I, ARTUCH, R

Get full text

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia by Briones, P., Vilaseca, M. A., Schollen, E., Ferrer, I., Maties, M., Busquets, C., Artuch, R., Gort, L., Marco, M., Schaftingen, E., Matthijs, G., Jaeken, J., Chabás, A.

“…We present our experience with the diagnosis of 26 patients (19 families) with congenital disorders of glycosylation classified as type Ia due toPMM…”
Get full text

Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment by Ormazabal, A., Vilaseca, M. A., Pérez‐Dueñas, B., Lambruschini, N., Gómez, L., Campistol, J., Artuch, R.

“…Summary Tetrahydrobiopterin (BH4) supplementation has been applied in PKU treatment, resulting in successful control of blood phenylalanine (Phe)…”
Get full text

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene by Vilaseca, M. A., Vilarinho, L., Zavadakova, P., Vela, E., Cleto, E., Pineda, M., Coimbra, E., Suormala, T., Fowler, B., Kozich, V.

“…Patients with the cblE type of homocystinuria usually present with megaloblastic anaemia, feeding difficulties, developmental delay and cerebral atrophy. We…”
Get full text

Plasma thiols and their determinants in phenylketonuria by COLOME, C, ARTUCH, R, SIERRA, C, BRANDI, N, LAMBRUSCHINI, N, CAMPISTOL, J, VILASECA, M.-A

“…Treatment of phenylketonuria (PKU) patients consists of a phenylalanine-restricted diet supplemented with a tyrosine-, vitamin- and oligoelement-enriched…”
Get full text