Zobrazeno 1 - 10
of 196
pro vyhledávání: '"FISH-ODOR SYNDROME"'
Autor:
Samantha Doyle, James J. O'Byrne, Mandy Nesbitt, Daniel N. Murphy, Zaza Abidin, Niall Byrne, Gregory Pastores, Richard Kirk, Eileen P. Treacy
Publikováno v:
JIMD Reports, Vol 47, Iss 1, Pp 35-40 (2019)
Abstract Background Inherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of malodorous trimethylamine (TMA), is a socially distressing disorder. Diagnosis is made by
Externí odkaz:
https://doaj.org/article/25a4e3334f0a44beb0e1c0c5f4d2778d
Autor:
Aaron C. Schmidt, Erik R. Hebels, Charlotte Weitzel, Anna Kletzmayr, Yinyin Bao, Christian Steuer, Jean‐Christophe Leroux
Publikováno v:
Advanced Science, Vol 7, Iss 8, Pp n/a-n/a (2020)
Abstract Trimethylamine (TMA) is a metabolite overtly present in patients suffering from trimethylaminuria (TMAU), a rare genetic disorder characterized by a strong “fishy” body odor. To date, no approved pharmacological treatment to sequester ex
Externí odkaz:
https://doaj.org/article/7e9a60f712064193a0f527e7acffb4d6
Akademický článek
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Publikováno v:
Korean Journal of Pediatrics, Vol 60, Iss 3, Pp 94-97 (2017)
Trimethylaminuria (TMAuria), known as “fish odor syndrome,” is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body s
Externí odkaz:
https://doaj.org/article/494df040675a40d7a11eb2faed7d397d
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 89-93 (2015)
Polymorphic human flavin-containing monooxygenase 3 (FMO3) is associated with the inherited disorder trimethylaminuria. Several FMO3 variants have been observed in a variety of ethnic groups, including a Japanese cohort suffering from trimethylaminur
Externí odkaz:
https://doaj.org/article/64cd3df7b261494ca3a8937d0a1e9d58
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
Autor:
Gregory M. Pastores, Mandy Nesbitt, James J. O’Byrne, Niall Byrne, Zaza Abidin, Richard Kirk, Eileen P. Treacy, Samantha Doyle, Daniel N. Murphy
Publikováno v:
JIMD Reports
JIMD Reports, Vol 47, Iss 1, Pp 35-40 (2019)
JIMD Reports, Vol 47, Iss 1, Pp 35-40 (2019)
Background Inherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of malodorous trimethylamine (TMA), is a socially distressing disorder. Diagnosis is made by biochemic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d62c191f48ac0afaa160bd47d2c5943c
http://europepmc.org/articles/PMC6498825
http://europepmc.org/articles/PMC6498825
Autor:
Schmidt, Aaron C., Hebels, Erik R., Weitzel, Charlotte, Kletzmayr, Anna, Bao, Yinyin, Steuer, Christian, Leroux, Jean-Christophe
Publikováno v:
Advanced Science, Vol 7, Iss 8, Pp n/a-n/a (2020)
Advanced Science, 7 (8)
Advanced Science
Advanced Science, 7 (8)
Advanced Science
Trimethylamine (TMA) is a metabolite overtly present in patients suffering from trimethylaminuria (TMAU), a rare genetic disorder characterized by a strong “fishy” body odor. To date, no approved pharmacological treatment to sequester excess TMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418e82dd9a0f5a93837420e4c8c000d7
https://doaj.org/article/7e9a60f712064193a0f527e7acffb4d6
https://doaj.org/article/7e9a60f712064193a0f527e7acffb4d6
Autor:
Makiko Shimizu, Guillermo Federico Spitzmaul, Maximiliano Alda, Sofia Stupniki, Hiroshi Yamazaki, Eugenio Manuel Aztiria, Saki Oyama, Leonardo Raul Dionisio
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Flavin-containing monooxygenase 3 (FMO3) is a polymorphic drug metabolizing enzyme associated with the genetic disorder trimethylaminuria. We phenotyped a white Argentinian 11-year-old girl by medical sensory evaluation. After pedigree analysis with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c45a8282125911b1210fd45045c9bef
https://pubmed.ncbi.nlm.nih.gov/32653296
https://pubmed.ncbi.nlm.nih.gov/32653296
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