Search Results - "Coll, MJ"

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations by Fernandez-Valero, EM, Ballart, A, Iturriaga, C, Lluch, M, Macias, J, Vanier, MT, Pineda, M, Coll, MJ

“…To better characterize Niemann‐Pick type C (NPC) in Spain and improve genetic counselling, molecular analyses were carried out in 40 unrelated Spanish…”
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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations by Morrone, A., Tylee, K.L., Al-Sayed, M., Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Ribeiro, I., Wang, R.Y., Miller, N.

“…Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme…”
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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…”
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Molecular analysis of 30 Niemann-Pick type C patients from Spain by Macías-Vidal, J, Rodríguez-Pascau, L, Sánchez-Ollé, G, Lluch, M, Vilageliu, L, Grinberg, D, Coll, MJ

“…Macías‐Vidal J, Rodríguez‐Pascau L, Sánchez‐Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ, the Spanish NPC Working Group. Molecular analysis of 30…”
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Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles by Canals, I, Elalaoui, SC, Pineda, M, Delgadillo, V, Szlago, M, Jaouad, IC, Sefiani, A, Chabás, A, Coll, MJ, Grinberg, D, Vilageliu, L

“…Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabás A, Coll MJ, Grinberg D, Vilageliu L. Molecular analysis of Sanfilippo…”
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Glutaryl-CoA dehydrogenase deficiency in Spain : Evidence of two groups of patients, genetically, and biochemically distinct by BUSQUETS, C, MERINERO, B, MARTI, M, CAMPOS, J, MARTINEZ-PARDO, M, MARTINEZ-BERMEJO, A, RUIZ-FALC, M. L, VAQUERIZO, J, OROZCO, M, UGARTE, M, COLL, M. J, RIBES, A, CHRISTENSEN, E, GELPI, J. L, CAMPISTOL, J, PINEDA, M, FERNANDEZ-ALVAREZ, E, PRATS, J. M, SANS, A, ARTEAGA, R

“…Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia…”
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X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females by Coll, MJ, Palau, N, Camps, C, Ruiz, M, Pàmpols, T, Girós, M

“…In this study, we analyzed the ABCD1 gene in 80 X‐linked adrenoleukodystrophy (X‐ALD) patients from 62 unrelated families. We identified 53 different…”
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Analysis of the CTNS gene in 32 cystinosis patients from Spain by Macías-Vidal, J, Rodés, M, Hernández-Pérez, JM, Vilaseca, MA, Coll, MJ

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Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula by Mangas, M, Nogueira, C, Prata, MJ, Lacerda, L, Coll, MJ, Soares, G, Ribeiro, G, Amaral, O, Ferreira, C, Alves, C, Coutinho, MF, Alves, S

“…Mucopolysaccharidosis type IIIB (Sanfilippo B disease) is a rare autosomal recessive disorder caused by defective α‐N‐acetylglucosaminidase (NAGLU). We…”
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Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation by Díaz-Font, Anna, Santamaría, Raül, Cozar, Mònica, Blanco, Mariana, Chamoles, Néstor, Coll, Maria Josep, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel

“…Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disease characterized by impaired activity of all known sulfatases. The…”
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Short Report: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations by Fernandez-Valero, E M, Ballart, A, Iturriaga, C, Lluch, M, Macias, J, Vanier, M T, Pineda, M, Coll, MJ

“…To better characterize Niemann-Pick type C (NPC) in Spain and improve genetic counselling, molecular analyses were carried out in 40 unrelated Spanish…”
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Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients by Gort, Laura, Coll, M. Josep, Chabás, Amparo

“…Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the…”
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Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation by Gort, Laura, Chabás, Amparo, Coll, M. Josep

“…Mucopolysaccharidosis type I is a lysosomal storage disease due to a‐L‐Iduronidase deficiency. Three main phenotypes have been reported: Hurler (severe),…”
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The contribution of molecular genetics to hereditary neurometabolic disorders by Coll, M J, Ribes, A

“…In this article we review the main contribution of molecular genetics to understanding hereditary neurometabolic disorders. This includes improvement in…”
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Hunter disease in the Spanish population: Molecular analysis in 31 families by Gort, L., Chabás, A., Coll, M. J.

“…Mucopolysaccharidosis type II (Hunter disease) is an X‐linked disorder due to deficiency of the lysosomal enzyme iduronate 2‐sulphatase. Here we report an…”
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Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria by Vargas-Díez, E., Chabás, A., Coll, M.J., Sánchez-Pérez, J., García-Díez, A., Fernández-Herrera, J.M.

“…Summary  Angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well‐known cutaneous marker of some…”
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Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations by Coll, M. J., Antón, C., Chabás, A.

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Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients by Montfort, Magda, Vilageliu, Lluïsa, Garcia-Giralt, Natàlia, Guidi, Silvina, Coll, Maria Josep, Chabás, Amparo, Grinberg, Daniel

“…The gene resposible for Sanfilippo syndrome type A, a lysosomal disorder caused by deficiency of sulfamidase, was recently cloned and more than 40 mutations…”
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Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I by Busquets, Christiane, Soriano, Mercedes, de Almeida, Isabel Tavares, Garavaglia, Barbara, Rimoldi, Marco, Rivera, Isabel, Uziel, Graziella, Cabral, Aguinaldo, Coll, M.Josep, Ribes, Antonia

“…Two novel (G390V and X439W) and five already known mutations were identified in a total of 14 GA I alleles from Italy and Portugal. The substitution X439W is a…”
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Calmodulin-binding proteins in the nuclei of quiescent and proliferatively activated rat liver cells by Bachs, O, Lanini, L, Serratosa, J, Coll, M J, Bastos, R, Aligué, R, Rius, E, Carafoli, E

“…alpha-Spectrin, myosin light chain kinase (MLCK), and caldesmon have been detected in the nuclei of rat liver cells by 125I-calmodulin overlay, immunoblotting,…”
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