Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kanterakis, Efstathios"'
Autor:
Jaganathan, Kishore, Kyriazopoulou Panagiotopoulou, Sofia, McRae, Jeremy F., Darbandi, Siavash Fazel, Knowles, David, Li, Yang I., Kosmicki, Jack A., Arbelaez, Juan, Cui, Wenwu, Schwartz, Grace B., Chow, Eric D., Kanterakis, Efstathios, Gao, Hong, Kia, Amirali, Batzoglou, Serafim, Sanders, Stephan J., Farh, Kyle Kai-How
Publikováno v:
In Cell 24 January 2019 176(3):535-548
Publikováno v:
[Research Report] RR-7005, INRIA. 2009, pp.35
With the increasing importance of fiber tracking in diffusion tensor images for clinical needs, there has been a growing demand for an objective mathematical framework to perform quantitative analysis of white matter fiber bundles incorporating their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eb0be4e5c49e2129c9eaa8e095bb72a4
https://hal.inria.fr/inria-00407828v2/document
https://hal.inria.fr/inria-00407828v2/document
Publikováno v:
Medical Image Computing & Computer-assisted Intervention - Miccai 2010; 2010, p631-639, 9p
Autor:
Jiménez Rojas, Erika Marcela
Publikováno v:
Yang, Chonglin; Wang, Xiaochen (2021) Lysosome biogenesis : Regulation and functions. Vol. 220; No. 6; pp. 1-15
Arends, Maarten; Wanner, Christoph; Hughes, Derralynn; Mehta, Atul; Oder, Daniel; Watkinson, Oliver T; Elliott, Perry M; Linthorst, Gabor E; Wijburg, Frits A; Biegstraaten, Marieke; Hollak, Carla E (2017) Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. En:J Am Soc Nephrol; Vol. 28; pp. 1631-1641; Disponible en: www.jasn.org. Disponible en: 10.1681/ASN.2016090964.
Platt, Frances M; Boland, Barry; van der Spoel, Aarnoud C. (2012) Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. En:Journal of Cell Biology; Vol. 199; No. 5; pp. 723-734; Disponible en: 10.1083/jcb.201208152.
Khoueiry, Maria; Malek, Elia; Salameh, Johnny S. (2020) Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis. En:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration; Vol. 21; No. 1-2; pp. 144-146; Taylor & Francis; Disponible en: https://doi.org/10.1080/21678421.2019.1663214. Disponible en: 10.1080/21678421.2019.1663214.
Parenti, Giancarlo; Medina, Diego L; Ballabio, Andrea (2021) The rapidly evolving view of lysosomal storage diseases. En:EMBO Molecular Medicine; Vol. 13; No. 2; Disponible en: 10.15252/emmm.202012836.
Riise Stensland, Hilde Monica Frostad; Klenow, Helle Bagterp; Nguyen, Lam Van; Hansen, Gaute Martin; Malm, Dag; Nilssen, Øivind (2012) Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations. En:Human Mutation; Vol. 33; No. 3; pp. 511-520; Disponible en: 10.1002/humu.22005.
Fernández-Marmiesse, Ana; Morey, Marcos; Pineda, Merce; Eiris, Jesús; Couce, Maria Luz; Castro-Gago, Manuel; Fraga, Jose Maria; Lacerda, Lucia; Gouveia, Sofia; Pérez-Poyato, Maria Socorro; Armstrong, Judith; Castiñeiras, Daisy; Cocho, Jose A. (2014) Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. En:Orphanet Journal of Rare Diseases; Vol. 9; No. 1; Disponible en: 10.1186/1750-1172-9-59.
Perretta, Fernando; Antongiovanni, Norberto; Jaurretche, Sebastián (2018) Major Organic Involvement in Women with Fabry Disease in Argentina. En:Scientific World Journal; Vol. 2018; Disponible en: 10.1155/2018/6515613.
Abtahi, Rezvan; Karimzadeh, Parvaneh; Aryani, Omid; Akbarzadeh, Diba; Salehpour, Shadab; Rezayi, Alireza; Tonekaboni, Seyed Hassan; Emameh, Reza Zolfaghari; Houshmand, Massoud (2022) Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations. En:Hereditas; Vol. 159; No. 1; pp. 1-11; BioMed Central; 4106502200224; Disponible en: https://doi.org/10.1186/s41065-022-00224-1. Disponible en: 10.1186/s41065-022-00224-1.
Lukas, Jan; Scalia, Simone; Eichler, Sabrina; Pockrandt, Anne Marie; Dehn, Nicole; Cozma, Claudia; Giese, Anne Katrin; Rolfs, Arndt (2016) Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. En:Human Mutation; Vol. 37; No. 1; pp. 43-51; Disponible en: 10.1002/humu.22910.
Vanier, Marie T.; Latour, Philippe (2015) Laboratory diagnosis of Niemann-Pick disease type C: The filipin staining test. En:Methods in Cell Biology; Vol. 126; pp. 357-375; Elsevier Ltd; Disponible en: http://dx.doi.org/10.1016/bs.mcb.2014.10.028. Disponible en: 10.1016/bs.mcb.2014.10.028.
Jaganathan, Kishore; Kyriazopoulou Panagiotopoulou, Sofia; McRae, Jeremy F.; Darbandi, Siavash Fazel; Knowles, David; Li, Yang I.; Kosmicki, Jack A.; Arbelaez, Juan; Cui, Wenwu; Schwartz, Grace B.; Chow, Eric D.; Kanterakis, Efstathios; Gao, Hong; Kia, Amirali; Batzoglou, Serafim; Sanders, Stephan J.; Farh, Kyle Kai How (2019) Predicting Splicing from Primary Sequence with Deep Learning. En:Cell; Vol. 176; No. 3; pp. 535-548.e24; Elsevier; Disponible en: http://dx.doi.org/10.1016/j.cell.2018.12.015. Disponible en: 10.1016/j.cell.2018.12.015.
de Duve, Christian (2005) The lysosome turns fifty. En:Nature cell biology; Vol. 7; No. 9; pp. 847-849; Disponible en: 10.1038/ncb0905-847.
Sung, Angela R.; Moretti, Paolo; Shaibani, Aziz (2018) Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene. En:Neurology: Genetics; Vol. 4; No. 4; pp. 1-3; 0000000000000; Disponible en: 10.1212/NXG.0000000000000260.
Vitales, Medicamentos; Disponibles, No; Comisi, L A; Medicamentos, Nacional D E Precios D E; En, Dicos; Que, Considerando; Vitales, Medicamentos; Disponibles, No (2022) MÉDICOS CIRCULAR NÚMERO 013 DE 2022 CIRCULAR NÚMERO xx DE. Vol. 2022; 2004964014
Wei, Jianshe; Takamatsu, Yoshiki; Wada, Ryoko; Fujita, Masayo; Ho, Gilbert; Masliah, Eliezer; Hashimoto, Makoto (2021) Therapeutic potential of αs evolvability for neuropathic gaucher disease. En:Biomolecules; Vol. 11; No. 2; pp. 1-11; Disponible en: 10.3390/biom11020289.
Wang, Raymond Y.; Lelis, Alicia; Mirocha, James; Wilcox, William R. (2007) Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. En:Genetics in Medicine; Vol. 9; No. 1; pp. 34-45; Disponible en: 10.1097/GIM.0b013e31802d8321.
Ballabio, Andrea (2016) The awesome lysosome. En:EMBO Molecular Medicine; Vol. 8; No. 2; pp. 73-76; Disponible en: 10.15252/emmm.201505966.
Vanier, Marie T. (2013) Niemann-Pick diseases. En:Handbook of Clinical Neurology; Vol. 113; pp. 1717-1721; Elsevier B.V.; Disponible en: http://dx.doi.org/10.1016/B978-0-444-59565-2.00041-1. Disponible en: 10.1016/B978-0-444-59565-2.00041-1.
Pará, Camila; Bose, Poulomee; Pshezhetsky, Alexey V (2020) Neuropathophysiology of lysosomal storage diseases: Synaptic dysfunction as a starting point for disease progression. En:Journal of Clinical Medicine; Vol. 9; No. 3; Disponible en: 10.3390/jcm9030616.
Martina, José A; Raben, Nina; Puertollano, Rosa (2021) Snapshot : Lysosomal Storage Diseases. Vol. 180; No. 3; pp. 3-8; Disponible en: 10.1016/j.cell.2020.01.017.Snapshot.
Germain, Dominique P. (2010) Fabry disease. En:Orphanet Journal of Rare Diseases; Vol. 5; No. 1; pp. 1-49; Disponible en: 10.1186/1750-1172-5-30.
Vockley, Jerry; Rinaldo, Piero; Bennett, Michael J.; Matern, Dietrich; Vladutiu, Georgirene D. (2000) Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways. En:Molecular Genetics and Metabolism; Vol. 71; No. 1-2; pp. 10-18; Disponible en: 10.1006/mgme.2000.3066.
Borgwardt, Line; Stensland, Hilde Monica Frostad Riise; Olsen, Klaus Juul; Wibrand, Flemming; Klenow, Helle Bagterp; Beck, Michael; Amraoui, Yasmina; Arash, Laila; Fogh, Jens; Nilssen, Øivind; Dali, Christine I.; Lund, Allan Meldgaard (2015) Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases. En:Orphanet Journal of Rare Diseases; Vol. 10; No. 1; Orphanet Journal of Rare Diseases; 2010022084; Disponible en: http://dx.doi.org/10.1186/s13023-015-0286-x. Disponible en: 10.1186/s13023-015-0286-x.
Pineda, Mercè; Walterfang, Mark; Patterson, Marc C (2018) Miglustat in Niemann-Pick disease type C patients: A review. En:Orphanet Journal of Rare Diseases; Vol. 13; No. 1; pp. 1-21; Orphanet Journal of Rare Diseases; Disponible en: 10.1186/s13023-018-0844-0.
Arends, Maarten; Wanner, Christoph; Hughes, Derralynn; Mehta, Atul; Oder, Daniel; Watkinson, Oliver T.; Elliott, Perry M.; Linthorst, Gabor E.; Wijburg, Frits A.; Biegstraaten, Marieke; Hollak, Carla E. (2017) Characterization of classical and nonclassical fabry disease: A multicenter study. En:Journal of the American Society of Nephrology; Vol. 28; No. 5; pp. 1631-1641; Disponible en: 10.1681/ASN.2016090964.
Marques, André R.A.; Saftig, Paul (2019) Lysosomal storage disorders – challenges, concepts and avenues for therapy: Beyond rare diseases. En:Journal of Cell Science; Vol. 132; No. 2; 0000000326377; Disponible en: 10.1242/jcs.221739.
Okada, S. (1995) Lysosomal storage disease. En:Nippon rinsho. Japanese journal of clinical medicine; Vol. 53; No. 12; pp. 2911-2914; Disponible en: 10.3233/trd-160005.
Platt, Frances M.; d’Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; Tifft, Cynthia J. (2018) Lysosomal storage diseases. En:Nature Reviews Disease Primers; Vol. 4; No. 1; Disponible en: 10.1038/s41572-018-0025-4.
Vanier, Marie T (2010) Open Access REVIEW Niemann-Pick disease type C. En:Vanier Orphanet Journal of Rare Diseases; Vol. 5; pp. 16-16; Disponible en: http://www.ojrd.com/content/5/1/16.
Maier, Esther M.; Osterrieder, Stephanie; Whybra, Catharina; Ries, Markus; Gal, Andreas; Beck, Michael; Roscher, Adelbert A.; Muntau, Ania C. (2006) Disease manifestations and X inactivation in heterozygous females with Fabry disease. En:Acta Paediatrica, International Journal of Paediatrics; Vol. 95; No. SUPPL. 451; pp. 30-38; Disponible en: 10.1080/08035320600618809.
Newton, Jason; Milstien, Sheldon; Spiegel, Sarah (2018) Niemann-Pick type C disease: The atypical sphingolipidosis. En:Advances in Biological Regulation; Vol. 70; pp. 82-88; Disponible en: 10.1016/j.jbior.2018.08.001.
Kolter, Thomas; Sandhoff, Konrad (2009) Lysosomal glycosphingolipid storage diseases. En:Neuroglycobiology: (Molecular and Cellular Neurobiology); 9780191723872; Disponible en: 10.1093/acprof:oso/9780198525387.003.0008.
Peters, Heidi; Ellaway, Carolyn; Nicholls, Kathleen; Reardon, Katrina; Szer, Jeff (2020) Treatable lysosomal storage diseases in the advent of disease-specific therapy. En:Internal Medicine Journal; Vol. 50; No. S4; pp. 5-27; Disponible en: 10.1111/imj.15100.
Snapshot_ Lysosomal Storage Diseases _ 1.pdf.
Elliott, Susan; Buroker, Norman; Cournoyer, Jason J.; Potier, Anna M.; Trometer, Joseph D.; Elbin, Carole; Schermer, Mack J.; Kantola, Jaana; Boyce, Aaron; Turecek, Frantisek; Gelb, Michael H.; Scott, C. Ronald (2016) Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. En:Molecular Genetics and Metabolism; Vol. 118; No. 4; pp. 304-309; Disponible en: 10.1016/j.ymgme.2016.05.015.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Arends, Maarten; Wanner, Christoph; Hughes, Derralynn; Mehta, Atul; Oder, Daniel; Watkinson, Oliver T; Elliott, Perry M; Linthorst, Gabor E; Wijburg, Frits A; Biegstraaten, Marieke; Hollak, Carla E (2017) Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. En:J Am Soc Nephrol; Vol. 28; pp. 1631-1641; Disponible en: www.jasn.org. Disponible en: 10.1681/ASN.2016090964.
Platt, Frances M; Boland, Barry; van der Spoel, Aarnoud C. (2012) Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. En:Journal of Cell Biology; Vol. 199; No. 5; pp. 723-734; Disponible en: 10.1083/jcb.201208152.
Khoueiry, Maria; Malek, Elia; Salameh, Johnny S. (2020) Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis. En:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration; Vol. 21; No. 1-2; pp. 144-146; Taylor & Francis; Disponible en: https://doi.org/10.1080/21678421.2019.1663214. Disponible en: 10.1080/21678421.2019.1663214.
Parenti, Giancarlo; Medina, Diego L; Ballabio, Andrea (2021) The rapidly evolving view of lysosomal storage diseases. En:EMBO Molecular Medicine; Vol. 13; No. 2; Disponible en: 10.15252/emmm.202012836.
Riise Stensland, Hilde Monica Frostad; Klenow, Helle Bagterp; Nguyen, Lam Van; Hansen, Gaute Martin; Malm, Dag; Nilssen, Øivind (2012) Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations. En:Human Mutation; Vol. 33; No. 3; pp. 511-520; Disponible en: 10.1002/humu.22005.
Fernández-Marmiesse, Ana; Morey, Marcos; Pineda, Merce; Eiris, Jesús; Couce, Maria Luz; Castro-Gago, Manuel; Fraga, Jose Maria; Lacerda, Lucia; Gouveia, Sofia; Pérez-Poyato, Maria Socorro; Armstrong, Judith; Castiñeiras, Daisy; Cocho, Jose A. (2014) Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. En:Orphanet Journal of Rare Diseases; Vol. 9; No. 1; Disponible en: 10.1186/1750-1172-9-59.
Perretta, Fernando; Antongiovanni, Norberto; Jaurretche, Sebastián (2018) Major Organic Involvement in Women with Fabry Disease in Argentina. En:Scientific World Journal; Vol. 2018; Disponible en: 10.1155/2018/6515613.
Abtahi, Rezvan; Karimzadeh, Parvaneh; Aryani, Omid; Akbarzadeh, Diba; Salehpour, Shadab; Rezayi, Alireza; Tonekaboni, Seyed Hassan; Emameh, Reza Zolfaghari; Houshmand, Massoud (2022) Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations. En:Hereditas; Vol. 159; No. 1; pp. 1-11; BioMed Central; 4106502200224; Disponible en: https://doi.org/10.1186/s41065-022-00224-1. Disponible en: 10.1186/s41065-022-00224-1.
Lukas, Jan; Scalia, Simone; Eichler, Sabrina; Pockrandt, Anne Marie; Dehn, Nicole; Cozma, Claudia; Giese, Anne Katrin; Rolfs, Arndt (2016) Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. En:Human Mutation; Vol. 37; No. 1; pp. 43-51; Disponible en: 10.1002/humu.22910.
Vanier, Marie T.; Latour, Philippe (2015) Laboratory diagnosis of Niemann-Pick disease type C: The filipin staining test. En:Methods in Cell Biology; Vol. 126; pp. 357-375; Elsevier Ltd; Disponible en: http://dx.doi.org/10.1016/bs.mcb.2014.10.028. Disponible en: 10.1016/bs.mcb.2014.10.028.
Jaganathan, Kishore; Kyriazopoulou Panagiotopoulou, Sofia; McRae, Jeremy F.; Darbandi, Siavash Fazel; Knowles, David; Li, Yang I.; Kosmicki, Jack A.; Arbelaez, Juan; Cui, Wenwu; Schwartz, Grace B.; Chow, Eric D.; Kanterakis, Efstathios; Gao, Hong; Kia, Amirali; Batzoglou, Serafim; Sanders, Stephan J.; Farh, Kyle Kai How (2019) Predicting Splicing from Primary Sequence with Deep Learning. En:Cell; Vol. 176; No. 3; pp. 535-548.e24; Elsevier; Disponible en: http://dx.doi.org/10.1016/j.cell.2018.12.015. Disponible en: 10.1016/j.cell.2018.12.015.
de Duve, Christian (2005) The lysosome turns fifty. En:Nature cell biology; Vol. 7; No. 9; pp. 847-849; Disponible en: 10.1038/ncb0905-847.
Sung, Angela R.; Moretti, Paolo; Shaibani, Aziz (2018) Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene. En:Neurology: Genetics; Vol. 4; No. 4; pp. 1-3; 0000000000000; Disponible en: 10.1212/NXG.0000000000000260.
Vitales, Medicamentos; Disponibles, No; Comisi, L A; Medicamentos, Nacional D E Precios D E; En, Dicos; Que, Considerando; Vitales, Medicamentos; Disponibles, No (2022) MÉDICOS CIRCULAR NÚMERO 013 DE 2022 CIRCULAR NÚMERO xx DE. Vol. 2022; 2004964014
Wei, Jianshe; Takamatsu, Yoshiki; Wada, Ryoko; Fujita, Masayo; Ho, Gilbert; Masliah, Eliezer; Hashimoto, Makoto (2021) Therapeutic potential of αs evolvability for neuropathic gaucher disease. En:Biomolecules; Vol. 11; No. 2; pp. 1-11; Disponible en: 10.3390/biom11020289.
Wang, Raymond Y.; Lelis, Alicia; Mirocha, James; Wilcox, William R. (2007) Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. En:Genetics in Medicine; Vol. 9; No. 1; pp. 34-45; Disponible en: 10.1097/GIM.0b013e31802d8321.
Ballabio, Andrea (2016) The awesome lysosome. En:EMBO Molecular Medicine; Vol. 8; No. 2; pp. 73-76; Disponible en: 10.15252/emmm.201505966.
Vanier, Marie T. (2013) Niemann-Pick diseases. En:Handbook of Clinical Neurology; Vol. 113; pp. 1717-1721; Elsevier B.V.; Disponible en: http://dx.doi.org/10.1016/B978-0-444-59565-2.00041-1. Disponible en: 10.1016/B978-0-444-59565-2.00041-1.
Pará, Camila; Bose, Poulomee; Pshezhetsky, Alexey V (2020) Neuropathophysiology of lysosomal storage diseases: Synaptic dysfunction as a starting point for disease progression. En:Journal of Clinical Medicine; Vol. 9; No. 3; Disponible en: 10.3390/jcm9030616.
Martina, José A; Raben, Nina; Puertollano, Rosa (2021) Snapshot : Lysosomal Storage Diseases. Vol. 180; No. 3; pp. 3-8; Disponible en: 10.1016/j.cell.2020.01.017.Snapshot.
Germain, Dominique P. (2010) Fabry disease. En:Orphanet Journal of Rare Diseases; Vol. 5; No. 1; pp. 1-49; Disponible en: 10.1186/1750-1172-5-30.
Vockley, Jerry; Rinaldo, Piero; Bennett, Michael J.; Matern, Dietrich; Vladutiu, Georgirene D. (2000) Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways. En:Molecular Genetics and Metabolism; Vol. 71; No. 1-2; pp. 10-18; Disponible en: 10.1006/mgme.2000.3066.
Borgwardt, Line; Stensland, Hilde Monica Frostad Riise; Olsen, Klaus Juul; Wibrand, Flemming; Klenow, Helle Bagterp; Beck, Michael; Amraoui, Yasmina; Arash, Laila; Fogh, Jens; Nilssen, Øivind; Dali, Christine I.; Lund, Allan Meldgaard (2015) Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases. En:Orphanet Journal of Rare Diseases; Vol. 10; No. 1; Orphanet Journal of Rare Diseases; 2010022084; Disponible en: http://dx.doi.org/10.1186/s13023-015-0286-x. Disponible en: 10.1186/s13023-015-0286-x.
Pineda, Mercè; Walterfang, Mark; Patterson, Marc C (2018) Miglustat in Niemann-Pick disease type C patients: A review. En:Orphanet Journal of Rare Diseases; Vol. 13; No. 1; pp. 1-21; Orphanet Journal of Rare Diseases; Disponible en: 10.1186/s13023-018-0844-0.
Arends, Maarten; Wanner, Christoph; Hughes, Derralynn; Mehta, Atul; Oder, Daniel; Watkinson, Oliver T.; Elliott, Perry M.; Linthorst, Gabor E.; Wijburg, Frits A.; Biegstraaten, Marieke; Hollak, Carla E. (2017) Characterization of classical and nonclassical fabry disease: A multicenter study. En:Journal of the American Society of Nephrology; Vol. 28; No. 5; pp. 1631-1641; Disponible en: 10.1681/ASN.2016090964.
Marques, André R.A.; Saftig, Paul (2019) Lysosomal storage disorders – challenges, concepts and avenues for therapy: Beyond rare diseases. En:Journal of Cell Science; Vol. 132; No. 2; 0000000326377; Disponible en: 10.1242/jcs.221739.
Okada, S. (1995) Lysosomal storage disease. En:Nippon rinsho. Japanese journal of clinical medicine; Vol. 53; No. 12; pp. 2911-2914; Disponible en: 10.3233/trd-160005.
Platt, Frances M.; d’Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; Tifft, Cynthia J. (2018) Lysosomal storage diseases. En:Nature Reviews Disease Primers; Vol. 4; No. 1; Disponible en: 10.1038/s41572-018-0025-4.
Vanier, Marie T (2010) Open Access REVIEW Niemann-Pick disease type C. En:Vanier Orphanet Journal of Rare Diseases; Vol. 5; pp. 16-16; Disponible en: http://www.ojrd.com/content/5/1/16.
Maier, Esther M.; Osterrieder, Stephanie; Whybra, Catharina; Ries, Markus; Gal, Andreas; Beck, Michael; Roscher, Adelbert A.; Muntau, Ania C. (2006) Disease manifestations and X inactivation in heterozygous females with Fabry disease. En:Acta Paediatrica, International Journal of Paediatrics; Vol. 95; No. SUPPL. 451; pp. 30-38; Disponible en: 10.1080/08035320600618809.
Newton, Jason; Milstien, Sheldon; Spiegel, Sarah (2018) Niemann-Pick type C disease: The atypical sphingolipidosis. En:Advances in Biological Regulation; Vol. 70; pp. 82-88; Disponible en: 10.1016/j.jbior.2018.08.001.
Kolter, Thomas; Sandhoff, Konrad (2009) Lysosomal glycosphingolipid storage diseases. En:Neuroglycobiology: (Molecular and Cellular Neurobiology); 9780191723872; Disponible en: 10.1093/acprof:oso/9780198525387.003.0008.
Peters, Heidi; Ellaway, Carolyn; Nicholls, Kathleen; Reardon, Katrina; Szer, Jeff (2020) Treatable lysosomal storage diseases in the advent of disease-specific therapy. En:Internal Medicine Journal; Vol. 50; No. S4; pp. 5-27; Disponible en: 10.1111/imj.15100.
Snapshot_ Lysosomal Storage Diseases _ 1.pdf.
Elliott, Susan; Buroker, Norman; Cournoyer, Jason J.; Potier, Anna M.; Trometer, Joseph D.; Elbin, Carole; Schermer, Mack J.; Kantola, Jaana; Boyce, Aaron; Turecek, Frantisek; Gelb, Michael H.; Scott, C. Ronald (2016) Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. En:Molecular Genetics and Metabolism; Vol. 118; No. 4; pp. 304-309; Disponible en: 10.1016/j.ymgme.2016.05.015.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
En este trabajo de investigación se analizan tres casos clínicos de condiciones raras: una enfermedad de olor inusual con gran afectación en el relacionamiento social de la persona afectada, una familia con neurodegeneración por depósito de hier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17057f1541269bedfe9f1603f8284dd6
The13thInternationalConferenceonMedicalImageComputingandComputer- Assisted Intervention, MICCAI 2010, was held in Beijing, China from 20-24 September,2010.ThevenuewastheChinaNationalConventionCenter(CNCC), China'slargestandnewestconferencecenterwith