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Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease.

JIMD reports

Ruiz-Andrés C, Sellés E, Arias A, Gort L.
PMID: 28220406
JIMD Rep. 2017;37:7-12. doi: 10.1007/8904_2017_6. Epub 2017 Feb 21.

Lysosomal acid lipase (LAL) is a lysosomal key enzyme involved in the intracellular hydrolysis of cholesteryl esters and triglycerides. Patients with very low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some...

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Ruiz-Andrés C, Sellés E, Arias A, et al. Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease. JIMD Rep. 2017;37:7-12doi: 10.1007/8904_2017_6.
Ruiz-Andrés, C., Sellés, E., Arias, A., Gort, L. (2017). Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease. JIMD reports, 377-12. https://doi.org/10.1007/8904_2017_6
Ruiz-Andrés, Carla, et al. "Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease." JIMD reports vol. 37 (2017): 7-12. doi: https://doi.org/10.1007/8904_2017_6
Ruiz-Andrés C, Sellés E, Arias A, Gort L. Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease. JIMD Rep. 2017;37:7-12. doi: 10.1007/8904_2017_6. Epub 2017 Feb 21. PMID: 28220406; PMCID: PMC5740053.
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[Central nervous system vasculitis-associated Antons syndrome].

Neurologia (Barcelona, Spain)

Arias M, Requena I, Sesar A.
PMID: 12084364
Neurologia. 2002 Jun-Jul;17(6):345; author reply 345-6.

No abstract available.

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Arias M, Requena I, Sesar A. Síndrome de Antón asociado a vasculitis de sistema nervioso central. [Central nervous system vasculitis-associated Antons syndrome]. Neurologia. 2002;17(6):345; author reply 345-6
Arias, M., Requena, I., & Sesar, A. (2002). Síndrome de Antón asociado a vasculitis de sistema nervioso central. [Central nervous system vasculitis-associated Antons syndrome]. Neurologia (Barcelona, Spain), 17(6), 345; author reply 345-6.
Arias, M, et al. "Síndrome de Antón asociado a vasculitis de sistema nervioso central." [Central nervous system vasculitis-associated Antons syndrome]. Neurologia (Barcelona, Spain) vol. 17,6 (2002): 345; author reply 345-6.
Arias M, Requena I, Sesar A. Síndrome de Antón asociado a vasculitis de sistema nervioso central. [Central nervous system vasculitis-associated Antons syndrome]. Neurologia. 2002 Jun-Jul;17(6):345; author reply 345-6. Spanish. PMID: 12084364.
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Genetic structure of brown trout, salmo trutta l., at the southern limit of the distribution range of the anadromous form.

Molecular ecology

Bouza C, Arias J, Castro J, Sanchez L, Martinez P.
PMID: 10632851
Mol Ecol. 1999 Dec;8(12):1991-2001. doi: 10.1046/j.1365-294x.1999.00794.x.

Genetic variation at 33 protein loci was investigated in 41 wild brown trout populations from four river basins in Galicia (northwest Spain) to analyse the amount and distribution of genetic diversity in a marginal area, located in the distribution...

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Bouza C, Arias J, Castro J, et al. Genetic structure of brown trout, salmo trutta l., at the southern limit of the distribution range of the anadromous form. Mol Ecol. 1999;8(12):1991-2001doi: 10.1046/j.1365-294x.1999.00794.x.
Bouza, C., Arias, J., Castro, J., Sanchez, L., & Martinez, P. (1999). Genetic structure of brown trout, salmo trutta l., at the southern limit of the distribution range of the anadromous form. Molecular ecology, 8(12), 1991-2001. https://doi.org/10.1046/j.1365-294x.1999.00794.x
Bouza, et al. "Genetic structure of brown trout, salmo trutta l., at the southern limit of the distribution range of the anadromous form." Molecular ecology vol. 8,12 (1999): 1991-2001. doi: https://doi.org/10.1046/j.1365-294x.1999.00794.x
Bouza C, Arias J, Castro J, Sanchez L, Martinez P. Genetic structure of brown trout, salmo trutta l., at the southern limit of the distribution range of the anadromous form. Mol Ecol. 1999 Dec;8(12):1991-2001. doi: 10.1046/j.1365-294x.1999.00794.x. PMID: 10632851.
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Characterization of volume and phase holographic gratings.

Applied optics

Quintanilla M, de Frutos AM, Arias I.
PMID: 18204542
Appl Opt. 1984 Jan 15;23(2):214. doi: 10.1364/ao.23.000214.

No abstract available.

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Quintanilla M, de Frutos AM, Arias I. Characterization of volume and phase holographic gratings. Appl Opt. 1984;23(2):214doi: 10.1364/ao.23.000214.
Quintanilla, M., de Frutos, A. M., & Arias, I. (1984). Characterization of volume and phase holographic gratings. Applied optics, 23(2), 214. https://doi.org/10.1364/ao.23.000214
Quintanilla, M, et al. "Characterization of volume and phase holographic gratings." Applied optics vol. 23,2 (1984): 214. doi: https://doi.org/10.1364/ao.23.000214
Quintanilla M, de Frutos AM, Arias I. Characterization of volume and phase holographic gratings. Appl Opt. 1984 Jan 15;23(2):214. doi: 10.1364/ao.23.000214. PMID: 18204542.
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Photodiode-based sensor for flame sensing and combustion-process monitoring.

Applied optics

Arias L, Torres S, Sbarbaro D, Farias O.
PMID: 18846197
Appl Opt. 2008 Oct 10;47(29):5541-9. doi: 10.1364/ao.47.005541.

A nonintrusive low-cost sensor based on silicon photodiode detectors has been designed to analyze the formation and behavior of excited CH(*) and C(2)(*) radicals in the combustion process by sensing the spectral emission of hydrocarbon flames. The sensor was...

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Arias L, Torres S, Sbarbaro D, et al. Photodiode-based sensor for flame sensing and combustion-process monitoring. Appl Opt. 2008;47(29):5541-9doi: 10.1364/ao.47.005541.
Arias, L., Torres, S., Sbarbaro, D., & Farias, O. (2008). Photodiode-based sensor for flame sensing and combustion-process monitoring. Applied optics, 47(29), 5541-9. https://doi.org/10.1364/ao.47.005541
Arias, Luis, et al. "Photodiode-based sensor for flame sensing and combustion-process monitoring." Applied optics vol. 47,29 (2008): 5541-9. doi: https://doi.org/10.1364/ao.47.005541
Arias L, Torres S, Sbarbaro D, Farias O. Photodiode-based sensor for flame sensing and combustion-process monitoring. Appl Opt. 2008 Oct 10;47(29):5541-9. doi: 10.1364/ao.47.005541. PMID: 18846197.
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Continuous plant cell perfusion culture: bioreactor characterization and secreted enzyme production.

Journal of bioscience and bioengineering

Su WW, Arias R.
PMID: 16233360
J Biosci Bioeng. 2003;95(1):13-20. doi: 10.1016/S1389-1723(03)80142-1.

Culture perfusion is widely practiced in mammalian cell processes to enhance secreted antibody production. Here, we report the development of an efficient continuous perfusion process for the cultivation of plant cell suspensions. The key to this process is a...

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Su WW, Arias R. Continuous plant cell perfusion culture: bioreactor characterization and secreted enzyme production. J Biosci Bioeng. 2003;95(1):13-20doi: 10.1016/S1389-1723(03)80142-1.
Su, W. W., & Arias, R. (2003). Continuous plant cell perfusion culture: bioreactor characterization and secreted enzyme production. Journal of bioscience and bioengineering, 95(1), 13-20. https://doi.org/10.1016/S1389-1723(03)80142-1
Su, Wei Wen, and Arias, Renee. "Continuous plant cell perfusion culture: bioreactor characterization and secreted enzyme production." Journal of bioscience and bioengineering vol. 95,1 (2003): 13-20. doi: https://doi.org/10.1016/S1389-1723(03)80142-1
Su WW, Arias R. Continuous plant cell perfusion culture: bioreactor characterization and secreted enzyme production. J Biosci Bioeng. 2003;95(1):13-20. doi: 10.1016/S1389-1723(03)80142-1. PMID: 16233360.
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Bayesian hierarchical model for estimating gene expression intensity using multiple scanned microarrays.

EURASIP journal on bioinformatics & systems biology

Gupta R, Arjas E, Kulathinal S, Thomas A, Auvinen P.
PMID: 18464926
EURASIP J Bioinform Syst Biol. 2008;231950. doi: 10.1155/2008/231950.

We propose a method for improving the quality of signal from DNA microarrays by using several scans at varying scanner sensitivities. A Bayesian latent intensity model is introduced for the analysis of such data. The method improves the accuracy...

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Gupta R, Arjas E, Kulathinal S, et al. Bayesian hierarchical model for estimating gene expression intensity using multiple scanned microarrays. EURASIP J Bioinform Syst Biol. 2008;231950doi: 10.1155/2008/231950.
Gupta, R., Arjas, E., Kulathinal, S., Thomas, A., & Auvinen, P. (2008). Bayesian hierarchical model for estimating gene expression intensity using multiple scanned microarrays. EURASIP journal on bioinformatics & systems biology, 231950. https://doi.org/10.1155/2008/231950
Gupta, Rashi, et al. "Bayesian hierarchical model for estimating gene expression intensity using multiple scanned microarrays." EURASIP journal on bioinformatics & systems biology vol. (2008): 231950. doi: https://doi.org/10.1155/2008/231950
Gupta R, Arjas E, Kulathinal S, Thomas A, Auvinen P. Bayesian hierarchical model for estimating gene expression intensity using multiple scanned microarrays. EURASIP J Bioinform Syst Biol. 2008;231950. doi: 10.1155/2008/231950. PMID: 18464926; PMCID: PMC3171389.
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Mononuclear, dinuclear, and hexanuclear goldI complexes with (aza-15-crown-5)dithiocarbamate.

Inorganic chemistry

Arias J, Bardají M, Espinet P.
PMID: 18237120
Inorg Chem. 2008 Mar 03;47(5):1597-606. doi: 10.1021/ic702252j. Epub 2008 Feb 01.

The reactions of sodium (aza-15-crown-5)dithiocarbamate with [AuClL] precursors lead to mono-, di-, or hexanuclear derivatives depending on L. The homoleptic hexanuclear gold(I) cluster [Au6(S2CNC10H20O4)6] is formed by displacement of the chloride and isocyanide ligands in [AuCl(CN(2,6-Me2C6H3))]. X-ray diffraction studies...

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Arias J, Bardají M, Espinet P. Mononuclear, dinuclear, and hexanuclear goldI complexes with (aza-15-crown-5)dithiocarbamate. Inorg Chem. 2008;47(5):1597-606doi: 10.1021/ic702252j.
Arias, J., Bardají, M., & Espinet, P. (2008). Mononuclear, dinuclear, and hexanuclear goldI complexes with (aza-15-crown-5)dithiocarbamate. Inorganic chemistry, 47(5), 1597-606. https://doi.org/10.1021/ic702252j
Arias, Javier, et al. "Mononuclear, dinuclear, and hexanuclear goldI complexes with (aza-15-crown-5)dithiocarbamate." Inorganic chemistry vol. 47,5 (2008): 1597-606. doi: https://doi.org/10.1021/ic702252j
Arias J, Bardají M, Espinet P. Mononuclear, dinuclear, and hexanuclear goldI complexes with (aza-15-crown-5)dithiocarbamate. Inorg Chem. 2008 Mar 03;47(5):1597-606. doi: 10.1021/ic702252j. Epub 2008 Feb 01. PMID: 18237120.
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Parametric characterization of coherent, lowest-order Gaussian beams propagating through hard-edged apertures.

Optics letters

Martínez-Herrero R, Mejías PM, Arias M.
PMID: 19859108
Opt Lett. 1995 Jan 15;20(2):124-6. doi: 10.1364/ol.20.000124.

Analytical expressions for the width, far-field divergence, crossed moment, and generalized beam-quality parameter of a coherent, lowest-order Gaussian beam propagating through hard-edged slits are given in terms of the size of the opening and of the position of the...

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Martínez-Herrero R, Mejías PM, Arias M. Parametric characterization of coherent, lowest-order Gaussian beams propagating through hard-edged apertures. Opt Lett. 1995;20(2):124-6doi: 10.1364/ol.20.000124.
Martínez-Herrero, R., Mejías, P. M., & Arias, M. (1995). Parametric characterization of coherent, lowest-order Gaussian beams propagating through hard-edged apertures. Optics letters, 20(2), 124-6. https://doi.org/10.1364/ol.20.000124
Martínez-Herrero, R, et al. "Parametric characterization of coherent, lowest-order Gaussian beams propagating through hard-edged apertures." Optics letters vol. 20,2 (1995): 124-6. doi: https://doi.org/10.1364/ol.20.000124
Martínez-Herrero R, Mejías PM, Arias M. Parametric characterization of coherent, lowest-order Gaussian beams propagating through hard-edged apertures. Opt Lett. 1995 Jan 15;20(2):124-6. doi: 10.1364/ol.20.000124. PMID: 19859108.
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Density functional study of the oxidation of small neutral and charged silver clusters.

Journal of nanoscience and nanotechnology

Pereiro M, Botana J, Baldomir D, Serantes D, Arias JE.
PMID: 20355469
J Nanosci Nanotechnol. 2010 Apr;10(4):2594-9. doi: 10.1166/jnn.2010.1437.

We have studied the energetic and structural stability of the interaction of molecular oxygen with small neutral, anionic and cationic silver clusters, Ag(n) (3 < or = n < or = < 8). The calculations have been carried out...

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Pereiro M, Botana J, Baldomir D, et al. Density functional study of the oxidation of small neutral and charged silver clusters. J Nanosci Nanotechnol. 2010;10(4):2594-9doi: 10.1166/jnn.2010.1437.
Pereiro, M., Botana, J., Baldomir, D., Serantes, D., & Arias, J. E. (2010). Density functional study of the oxidation of small neutral and charged silver clusters. Journal of nanoscience and nanotechnology, 10(4), 2594-9. https://doi.org/10.1166/jnn.2010.1437
Pereiro, M, et al. "Density functional study of the oxidation of small neutral and charged silver clusters." Journal of nanoscience and nanotechnology vol. 10,4 (2010): 2594-9. doi: https://doi.org/10.1166/jnn.2010.1437
Pereiro M, Botana J, Baldomir D, Serantes D, Arias JE. Density functional study of the oxidation of small neutral and charged silver clusters. J Nanosci Nanotechnol. 2010 Apr;10(4):2594-9. doi: 10.1166/jnn.2010.1437. PMID: 20355469.
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Silver nanoparticles functionalized in situ with the conjugated polymer (PEDOT:PSS).

Journal of nanoscience and nanotechnology

Moreno KJ, Moggio I, Arias E, Llarena I, Moya SE, Ziolo RF, Barrientos H.
PMID: 19504952
J Nanosci Nanotechnol. 2009 Jun;9(6):3987-92. doi: 10.1166/jnn.2009.215.

Silver nanoparticles have been functionalized in situ with the electrically conducting polymer, poly(3,4-ethylenedioxythiophene)-poly(styrene sulfonate) (PEDOT:PSS) via colloidal synthesis. The formation of the functionalized silver nanoparticles, hereafter designated Ag(PEDOT:PSS), was confirmed by the appearance of the characteristic plasmon absorption peak...

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Moreno KJ, Moggio I, Arias E, et al. Silver nanoparticles functionalized in situ with the conjugated polymer (PEDOT:PSS). J Nanosci Nanotechnol. 2009;9(6):3987-92doi: 10.1166/jnn.2009.215.
Moreno, K. J., Moggio, I., Arias, E., Llarena, I., Moya, S. E., Ziolo, R. F., & Barrientos, H. (2009). Silver nanoparticles functionalized in situ with the conjugated polymer (PEDOT:PSS). Journal of nanoscience and nanotechnology, 9(6), 3987-92. https://doi.org/10.1166/jnn.2009.215
Moreno, Karla J, et al. "Silver nanoparticles functionalized in situ with the conjugated polymer (PEDOT:PSS)." Journal of nanoscience and nanotechnology vol. 9,6 (2009): 3987-92. doi: https://doi.org/10.1166/jnn.2009.215
Moreno KJ, Moggio I, Arias E, Llarena I, Moya SE, Ziolo RF, Barrientos H. Silver nanoparticles functionalized in situ with the conjugated polymer (PEDOT:PSS). J Nanosci Nanotechnol. 2009 Jun;9(6):3987-92. doi: 10.1166/jnn.2009.215. PMID: 19504952.
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Magnetocaloric effect in magnetic nanoparticle systems: how to choose the best magnetic material?.

Journal of nanoscience and nanotechnology

Serantes D, Baldomir D, Pereiro M, Botana J, Prida VM, Hernando B, Arias JE, Rivas J.
PMID: 20355455
J Nanosci Nanotechnol. 2010 Apr;10(4):2512-7. doi: 10.1166/jnn.2010.1424.

Magnetic nanoparticles with controlled magnetocaloric properties are a good candidate to lower the temperature of nanosized systems: they are easy to manipulate and to distribute into different geometries, as wires or planes. Using a Monte Carlo technique we study...

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Serantes D, Baldomir D, Pereiro M, et al. Magnetocaloric effect in magnetic nanoparticle systems: how to choose the best magnetic material?. J Nanosci Nanotechnol. 2010;10(4):2512-7doi: 10.1166/jnn.2010.1424.
Serantes, D., Baldomir, D., Pereiro, M., Botana, J., Prida, V. M., Hernando, B., Arias, J. E., & Rivas, J. (2010). Magnetocaloric effect in magnetic nanoparticle systems: how to choose the best magnetic material?. Journal of nanoscience and nanotechnology, 10(4), 2512-7. https://doi.org/10.1166/jnn.2010.1424
Serantes, D, et al. "Magnetocaloric effect in magnetic nanoparticle systems: how to choose the best magnetic material?." Journal of nanoscience and nanotechnology vol. 10,4 (2010): 2512-7. doi: https://doi.org/10.1166/jnn.2010.1424
Serantes D, Baldomir D, Pereiro M, Botana J, Prida VM, Hernando B, Arias JE, Rivas J. Magnetocaloric effect in magnetic nanoparticle systems: how to choose the best magnetic material?. J Nanosci Nanotechnol. 2010 Apr;10(4):2512-7. doi: 10.1166/jnn.2010.1424. PMID: 20355455.
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Showing 13 to 24 of 597 entries