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Results: 1-25 | 26-35
Results: 1-25/35
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation
Authors: Armstrong, J Poo, P Pineda, M Aibar, E Gean, E Catala, V Monros, E
Citation: J. Armstrong et al., Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation, ANN NEUROL, 50(5), 2001, pp. 692-692
Cloning, characterization and mRNA expression analysis of PVAS1, a type I asparagine synthetase gene from Phaseolus vulgaris
Authors: Osuna, D Galvez-Valdivieso, G Piedras, P Pineda, M Aguilar, M
Citation: D. Osuna et al., Cloning, characterization and mRNA expression analysis of PVAS1, a type I asparagine synthetase gene from Phaseolus vulgaris, PLANTA, 213(3), 2001, pp. 402-410
Urea is a product of ureidoglycolate degradation in chickpea. Purificationand characterization of the ureidoglycolate urea-lyase
Authors: Munoz, A Piedras, P Aguilar, M Pineda, M
Citation: A. Munoz et al., Urea is a product of ureidoglycolate degradation in chickpea. Purificationand characterization of the ureidoglycolate urea-lyase, PLANT PHYSL, 125(2), 2001, pp. 828-834
Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system x(c)(-)
Authors: Bassi, MT Gasol, E Manzoni, M Pineda, M Riboni, M Martin, R Zorzano, A Borsani, G Palacin, M
Citation: Mt. Bassi et al., Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system x(c)(-), PFLUG ARCH, 442(2), 2001, pp. 286-296
Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation
Authors: Colome, C Ferrer, I Artuch, R Vilaseca, MA Pineda, M Briones, P
Citation: C. Colome et al., Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation, CLIN CH L M, 38(10), 2000, pp. 965-969
Functional analysis of novel mutations in y(+)LAT-1 amino acid transportergene causing lysinuric protein intolerance (LPI)
Authors: Mykkanen, J Torrents, D Pineda, M Camps, M Yoldi, ME Horelli-Kuitunen, N Huoponen, K Heinonen, M Oksanen, J Simell, O Savontaus, ML Zorzano, A Palacin, M Aula, P
Citation: J. Mykkanen et al., Functional analysis of novel mutations in y(+)LAT-1 amino acid transportergene causing lysinuric protein intolerance (LPI), HUM MOL GEN, 9(3), 2000, pp. 431-438
Knowledge and opinions about organ donation among urban high school students: pilot test of a health education program
Authors: Weaver, M Spigner, C Pineda, M Rabun, KG Allen, MD
Citation: M. Weaver et al., Knowledge and opinions about organ donation among urban high school students: pilot test of a health education program, CLIN TRANSP, 14(4), 2000, pp. 292-303
Mutation analysis of 16S rRNA in patients with Rett syndrome
Authors: Armstrong, J Pineda, M Monros, E
Citation: J. Armstrong et al., Mutation analysis of 16S rRNA in patients with Rett syndrome, PED NEUROL, 23(1), 2000, pp. 85-87
Hepatitis B knowledge among Vietnamese immigrants: Implications for prevention of hepatocellular carcinoma
Authors: Taylor, VM Jackson, JC Pineda, M Pham, P Fischer, M Yasui, Y
Citation: Vm. Taylor et al., Hepatitis B knowledge among Vietnamese immigrants: Implications for prevention of hepatocellular carcinoma, J CANCER ED, 15(1), 2000, pp. 51-55
Children with stroke: Polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status
Authors: Cardo, E Monros, E Colome, C Artuch, R Campistol, J Pineda, M Vilaseca, MA
Citation: E. Cardo et al., Children with stroke: Polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status, J CHILD NEU, 15(5), 2000, pp. 295-298
Diagnostic approach to inborn errors of metabolism in an emergency unit
Authors: Calvo, M Artuch, R Macia, E Luaces, C Vilaseca, MA Pou, J Pineda, M
Citation: M. Calvo et al., Diagnostic approach to inborn errors of metabolism in an emergency unit, PEDIAT EMER, 16(6), 2000, pp. 405-408
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
Authors: de Koning, TJ Jaeken, J Pineda, M Van Maldergem, L Poll-The, BT van der Knaap, MS
Citation: Tj. De Koning et al., Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency, NEUROPEDIAT, 31(6), 2000, pp. 287-292
Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct
Authors: Busquets, C Merinero, B Christensen, E Gelpi, JL Campistol, J Pineda, M Fernandez-Alvarez, E Prats, JM Sans, A Arteaga, R Marti, M Campos, J Martinez-Pardo, M Martinez-Bermejo, A Ruiz-Falco, ML Vaquerizo, J Orozco, M Ugarte, M Coll, MJ Ribes, A
Citation: C. Busquets et al., Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct, PEDIAT RES, 48(3), 2000, pp. 315-322
Performance of zinc oxide based sorbents for hot coal gas desulfurization in multicycle tests in a fixed-bed reactor
Authors: Pineda, M Palacios, JM Alonso, L Garcia, E Moliner, R
Citation: M. Pineda et al., Performance of zinc oxide based sorbents for hot coal gas desulfurization in multicycle tests in a fixed-bed reactor, FUEL, 79(8), 2000, pp. 885-895
3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
Authors: Pineda, M Vilaseca, MA Artuch, R Santos, S Gonzalez, MMG Sau, I Aracil, A Van Schaftingen, E Jaeken, J
Citation: M. Pineda et al., 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome, DEVELOP MED, 42(9), 2000, pp. 629-633
Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases
Authors: Artuch, R Colome, C Playan, A Alcaine, MJ Briones, P Montoya, J Vilaseca, MA Pineda, M
Citation: R. Artuch et al., Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases, CLIN BIOCH, 33(6), 2000, pp. 481-485
Allantoate amidinohydrolase (allantoicase) from Chlamydomonas reinhardtii:Its purification and catalytic and molecular characterization
Authors: Piedras, P Munoz, A Aguilar, M Pineda, M
Citation: P. Piedras et al., Allantoate amidinohydrolase (allantoicase) from Chlamydomonas reinhardtii:Its purification and catalytic and molecular characterization, ARCH BIOCH, 378(2), 2000, pp. 340-348
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
Authors: Klomp, LWJ de Koning, TJ Malingre, HEM van Beurden, EACM Brink, M Opdam, FL Duran, M Jaeken, J Pineda, M van Maldergem, L Poll-The, BT van den Berg, IET Berger, R
Citation: Lwj. Klomp et al., Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis, AM J HU GEN, 67(6), 2000, pp. 1389-1399
Early onset cerebellar ataxia and preservation of tendon reflexes: Clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes
Authors: De Castro, M Cruz-Martinez, A Vilchez, JJ Sevilla, T Pineda, M Berciano, J Palau, F
Citation: M. De Castro et al., Early onset cerebellar ataxia and preservation of tendon reflexes: Clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes, J PERIPH N, 4(1), 1999, pp. 58-62
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT
Authors: Feliubadalo, L Font, M Purroy, J Rousaud, F Estivill, X Nunes, V Golomb, E Centola, M Aksentijevich, I Kreiss, Y Goldman, B Pras, M Kastner, DL Pras, E Gasparini, P Bisceglia, L Beccia, E Gallucci, M de Sanctis, L Ponzone, A Rizzoni, GF Zelante, L Bassi, MT George, AL Manzoni, M De Grandi, A Riboni, M Endsley, JK Ballabio, A Borsani, G Reig, N Fernandez, E Estevez, R Pineda, M Torrents, D Camps, M Lloberas, J Zorzano, A Palacin, M
Citation: L. Feliubadalo et al., Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT, NAT GENET, 23(1), 1999, pp. 52-57
Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene
Authors: Torrents, D Mykkanen, J Pineda, M Feliubadalo, L Estevez, R de Cid, R Sanjurjo, P Zorzano, A Nunes, V Huoponen, K Reinikainen, A Simell, O Savontaus, ML Aula, P Palacin, M
Citation: D. Torrents et al., Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene, NAT GENET, 21(3), 1999, pp. 293-296
Role of two upstream open reading frames in the translational control of oncogene mdm2
Authors: Brown, CY Mize, GJ Pineda, M George, DL Morris, DR
Citation: Cy. Brown et al., Role of two upstream open reading frames in the translational control of oncogene mdm2, ONCOGENE, 18(41), 1999, pp. 5631-5637
Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomalmosaicism
Authors: Pineda, M Giros, M Roels, F Espeel, M Ruiz, M Moser, A Moser, HW Wanders, RJA Pavia, C Conill, J Aracil, A Amat, L Pampols, T
Citation: M. Pineda et al., Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomalmosaicism, J CHILD NEU, 14(7), 1999, pp. 434-439
Pharmacokinetic study of amiodarone in dogs
Authors: Saavedra, I Manriquez, C Gaete, L Manterola, JL Saavedra, M Pineda, M
Citation: I. Saavedra et al., Pharmacokinetic study of amiodarone in dogs, ARCH MED V, 31(2), 1999, pp. 257-263
Isolation and characterization of uricase from bean leaves and its comparison with uredospore enzymes
Authors: Montalbini, P Aguilar, M Pineda, M
Citation: P. Montalbini et al., Isolation and characterization of uricase from bean leaves and its comparison with uredospore enzymes, PLANT SCI, 147(2), 1999, pp. 139-147
Risultati: 1-25 | 26-35