Статті в журналах з теми "Lysosomal storage disorder (LSD)"
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Kuk, Myeong Uk, Yun Haeng Lee, Jae Won Kim, Su Young Hwang, Joon Tae Park, and Sang Chul Park. "Potential Treatment of Lysosomal Storage Disease through Modulation of the Mitochondrial—Lysosomal Axis." Cells 10, no. 2 (February 17, 2021): 420. http://dx.doi.org/10.3390/cells10020420.
Повний текст джерелаHayashi, Okamoto, Kawano, and Iwasaki. "Development of Organelle Replacement Therapy Using a Stearyl-Polyhistidine Peptide against Lysosomal Storage Disease Cells." Molecules 24, no. 16 (August 18, 2019): 2995. http://dx.doi.org/10.3390/molecules24162995.
Повний текст джерелаGorbunova, Victoria N. "Congenital metabolic diseases. Lysosomal storage diseases." Pediatrician (St. Petersburg) 12, no. 2 (August 11, 2021): 73–83. http://dx.doi.org/10.17816/ped12273-83.
Повний текст джерелаBlumenreich, Shani, Or B. Barav, Bethan J. Jenkins, and Anthony H. Futerman. "Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease." International Journal of Molecular Sciences 21, no. 14 (July 14, 2020): 4966. http://dx.doi.org/10.3390/ijms21144966.
Повний текст джерелаOnyenwoke, Rob U., Jonathan Z. Sexton, Feng Yan, María Cristina Huertas Díaz, Lawrence J. Forsberg, Michael B. Major, and Jay E. Brenman. "The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase." Biochemical Journal 470, no. 3 (September 4, 2015): 331–42. http://dx.doi.org/10.1042/bj20150219.
Повний текст джерелаDe Filippis, Concetta, Barbara Napoli, Laura Rigon, Giulia Guarato, Reinhard Bauer, Rosella Tomanin, and Genny Orso. "Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes." Cells 11, no. 1 (December 31, 2021): 129. http://dx.doi.org/10.3390/cells11010129.
Повний текст джерелаAltarescu, Gheona, Rachel Beeri, Rachel Eiges, Silvina Epsztejn-Litman, Talia Eldar-Geva, Deborah Elstein, Ari Zimran, Ehud J. Margalioth, Ephrat Levy-Lahad, and Paul Renbaum. "Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis." Molecular Biology International 2012 (December 26, 2012): 1–9. http://dx.doi.org/10.1155/2012/797342.
Повний текст джерелаAmodio, Federica, Martina Caiazza, Emanuele Monda, Marta Rubino, Laura Capodicasa, Flavia Chiosi, Vincenzo Simonelli, et al. "An Overview of Molecular Mechanisms in Fabry Disease." Biomolecules 12, no. 10 (October 12, 2022): 1460. http://dx.doi.org/10.3390/biom12101460.
Повний текст джерелаMeikle, Peter J., Doug A. Brooks, Elaine M. Ravenscroft, Miao Yan, Ruth E. Williams, Alvis E. Jaunzems, Timothy K. Chataway, et al. "Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker." Clinical Chemistry 43, no. 8 (August 1, 1997): 1325–35. http://dx.doi.org/10.1093/clinchem/43.8.1325.
Повний текст джерелаLa Cognata, Valentina, Maria Guarnaccia, Agata Polizzi, Martino Ruggieri, and Sebastiano Cavallaro. "Highlights on Genomics Applications for Lysosomal Storage Diseases." Cells 9, no. 8 (August 14, 2020): 1902. http://dx.doi.org/10.3390/cells9081902.
Повний текст джерелаGolabek, Adam A., and Elizabeth Kida. "Tripeptidyl-peptidase I in health and disease." Biological Chemistry 387, no. 8 (August 1, 2006): 1091–99. http://dx.doi.org/10.1515/bc.2006.135.
Повний текст джерелаMashima, Ryuichi, Torayuki Okuyama, and Mari Ohira. "Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry." International Journal of Molecular Sciences 21, no. 8 (April 14, 2020): 2704. http://dx.doi.org/10.3390/ijms21082704.
Повний текст джерелаIvanova, Margarita. "Altered Sphingolipids Metabolism Damaged Mitochondrial Functions: Lessons Learned From Gaucher and Fabry Diseases." Journal of Clinical Medicine 9, no. 4 (April 14, 2020): 1116. http://dx.doi.org/10.3390/jcm9041116.
Повний текст джерелаChang, Melissa H. Y., Colleen A. Bindloss, Gregory A. Grabowski, Xiaoyang Qi, Bryan Winchester, John J. Hopwood, and Peter J. Meikle. "Saposins A, B, C, and D in Plasma of Patients with Lysosomal Storage Disorders." Clinical Chemistry 46, no. 2 (February 1, 2000): 167–74. http://dx.doi.org/10.1093/clinchem/46.2.167.
Повний текст джерелаGul, Rutaba, Sabika Firasat, Mulazim Hussain, Muhammad Tufail, Waheed Ahmad, and Kiran Afshan. "Neurological manifestations in Pakistani lysosomal storage disorders patients and molecular characterization of Gaucher disease." Genetika 53, no. 3 (2021): 1017–29. http://dx.doi.org/10.2298/gensr2103017g.
Повний текст джерелаFaverio, Paola, Anna Stainer, Federica De Giacomi, Serena Gasperini, Serena Motta, Francesco Canonico, Federico Pieruzzi, Anna Monzani, Alberto Pesci, and Andrea Biondi. "Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases." International Journal of Molecular Sciences 20, no. 2 (January 15, 2019): 327. http://dx.doi.org/10.3390/ijms20020327.
Повний текст джерелаKariyappa, Pushpalatha, Dakshayani Manjunath, Sushmitha Sarode, and Udayakumar SSeetharam Rao. "Clinical spectrum of lysosomal storage disorders in children." International Journal of Contemporary Pediatrics 9, no. 8 (July 25, 2022): 757. http://dx.doi.org/10.18203/2349-3291.ijcp20221860.
Повний текст джерелаDarbà, Josep, and Alicia Marsà. "Current Status and Use of Resources of Lysosomal Storage Diseases: Analysis of a Spanish Claims Database." Endocrine, Metabolic & Immune Disorders - Drug Targets 20, no. 2 (February 14, 2020): 263–70. http://dx.doi.org/10.2174/1871530319666190807162344.
Повний текст джерелаRyckman, Alex E., Inka Brockhausen, and Jagdeep S. Walia. "Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders." International Journal of Molecular Sciences 21, no. 18 (September 19, 2020): 6881. http://dx.doi.org/10.3390/ijms21186881.
Повний текст джерелаFeng, Xinghua, Zhuangzhuang Zhao, Qian Li, and Zhiyong Tan. "Lysosomal Potassium Channels: Potential Roles in Lysosomal Function and Neurodegenerative Diseases." CNS & Neurological Disorders - Drug Targets 17, no. 4 (July 6, 2018): 261–66. http://dx.doi.org/10.2174/1871527317666180202110717.
Повний текст джерелаMartínez-Bailén, Macarena, Francesca Clemente, Camilla Matassini, and Francesca Cardona. "GCase Enhancers: A Potential Therapeutic Option for Gaucher Disease and Other Neurological Disorders." Pharmaceuticals 15, no. 7 (July 2, 2022): 823. http://dx.doi.org/10.3390/ph15070823.
Повний текст джерелаBurton, Barbara, Joel Charrow, Brad Angle, Shanna Widera, and Darrel Waggoner. "A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois." Molecular Genetics and Metabolism 105, no. 2 (February 2012): S23—S24. http://dx.doi.org/10.1016/j.ymgme.2011.11.038.
Повний текст джерелаŽigman, Tamara, Danijela Petković Ramadža, Mario Lušić, Marija Zekušić, Dorotea Ninković, Danilo Gardijan, Kristina Potočki, et al. "Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene." Journal of Pediatric Endocrinology and Metabolism 31, no. 10 (October 25, 2018): 1155–59. http://dx.doi.org/10.1515/jpem-2017-0397.
Повний текст джерелаPierzynowska, Karolina, Estera Rintz, Lidia Gaffke, and Grzegorz Węgrzyn. "Ferroptosis and Its Modulation by Autophagy in Light of the Pathogenesis of Lysosomal Storage Diseases." Cells 10, no. 2 (February 10, 2021): 365. http://dx.doi.org/10.3390/cells10020365.
Повний текст джерелаTancini, Brunella, Sandra Buratta, Krizia Sagini, Eva Costanzi, Federica Delo, Lorena Urbanelli, and Carla Emiliani. "Insight into the Role of Extracellular Vesicles in Lysosomal Storage Disorders." Genes 10, no. 7 (July 6, 2019): 510. http://dx.doi.org/10.3390/genes10070510.
Повний текст джерелаRigon, Laura, Concetta De Filippis, Barbara Napoli, Rosella Tomanin, and Genny Orso. "Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery." Biomedicines 9, no. 3 (March 7, 2021): 268. http://dx.doi.org/10.3390/biomedicines9030268.
Повний текст джерелаHebbar, Sarita, Avinash Khandelwal, R. Jayashree, Samantha J. Hindle, Yin Ning Chiang, Joanne Y. Yew, Sean T. Sweeney, and Dominik Schwudke. "Lipid metabolic perturbation is an early-onset phenotype in adult spinster mutants: a Drosophila model for lysosomal storage disorders." Molecular Biology of the Cell 28, no. 26 (December 15, 2017): 3728–40. http://dx.doi.org/10.1091/mbc.e16-09-0674.
Повний текст джерелаErwin, Angelika L. "The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency." Therapeutic Advances in Gastroenterology 10, no. 7 (April 26, 2017): 553–62. http://dx.doi.org/10.1177/1756283x17705775.
Повний текст джерелаYoon, Hyundong, Seulki Song, Yeeun Ha, Youngil Koh, and SungSoo Yoon. "Abstract 1574: LSD-germline variant drive oncogenicity." Cancer Research 82, no. 12_Supplement (June 15, 2022): 1574. http://dx.doi.org/10.1158/1538-7445.am2022-1574.
Повний текст джерелаMatern, Dietrich, Silvia Tortorelli, Devin Oglesbee, Dimitar Gavrilov, Piero Rinaldo, and Kimiyo Raymond. "Development of Efficient and Effective Newborn Screening (NBS) Strategies for Lysosomal Storage Disorders (LSD)." Molecular Genetics and Metabolism 105, no. 2 (February 2012): S45—S46. http://dx.doi.org/10.1016/j.ymgme.2011.11.111.
Повний текст джерелаHintze, Stefan, Sarah Limmer, Paulina Dabrowska-Schlepp, Birgit Berg, Nicola Krieghoff, Andreas Busch, Andreas Schaaf, Peter Meinke, and Benedikt Schoser. "Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease." International Journal of Molecular Sciences 21, no. 7 (April 10, 2020): 2642. http://dx.doi.org/10.3390/ijms21072642.
Повний текст джерелаPrat Castro, Sandra, Veronika Kudrina, Dawid Jaślan, Julia Böck, Anna Scotto Rosato, and Christian Grimm. "Neurodegenerative Lysosomal Storage Disorders: TPC2 Comes to the Rescue!" Cells 11, no. 18 (September 8, 2022): 2807. http://dx.doi.org/10.3390/cells11182807.
Повний текст джерелаDe Jesus, Victor R., X. Kate Zhang, Joan Keutzer, Olaf A. Bodamer, Adolf Mühl, Joseph J. Orsini, Michele Caggana, Robert F. Vogt, and W. Harry Hannon. "Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders." Clinical Chemistry 55, no. 1 (January 1, 2009): 158–64. http://dx.doi.org/10.1373/clinchem.2008.111864.
Повний текст джерелаMetz, Thomas F., Thomas P. Mechtler, Joseph J. Orsini, Monica Martin, Bori Shushan, Joseph L. Herman, Rene Ratschmann, et al. "Simplified Newborn Screening Protocol for Lysosomal Storage Disorders." Clinical Chemistry 57, no. 9 (September 1, 2011): 1286–94. http://dx.doi.org/10.1373/clinchem.2011.164640.
Повний текст джерелаKongmanas, Kessiri, Arpornrad Saewu, Wongsakorn Kiattiburut, Mark A. Baker, Kym F. Faull, Dylan Burger, and Nongnuj Tanphaichitr. "Accumulation of Seminolipid in Sertoli Cells Is Associated with Increased Levels of Reactive Oxygen Species and Male Subfertility: Studies in Aging Arsa Null Male Mice." Antioxidants 10, no. 6 (June 4, 2021): 912. http://dx.doi.org/10.3390/antiox10060912.
Повний текст джерелаLeistner, Sandra, and Roberto Giugliani. "A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses." Genetics and Molecular Biology 21, no. 1 (March 1998): 163–67. http://dx.doi.org/10.1590/s1415-47571998000100028.
Повний текст джерелаTortorelli, Silvia, Coleman T. Turgeon, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo M. Raymond, Piero Rinaldo, and Dietrich Matern. "Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry." Clinical Chemistry 62, no. 9 (September 1, 2016): 1248–54. http://dx.doi.org/10.1373/clinchem.2016.256255.
Повний текст джерелаWei, Jianshe, Yoshiki Takamatsu, Ryoko Wada, Masayo Fujita, Gilbert Ho, Eliezer Masliah та Makoto Hashimoto. "Therapeutic Potential of αS Evolvability for Neuropathic Gaucher Disease". Biomolecules 11, № 2 (15 лютого 2021): 289. http://dx.doi.org/10.3390/biom11020289.
Повний текст джерелаSharma, Anu, Radhika Sujatha, Sankar V. H, Krishna Neisseril, and Akash Nair. "Galactosialidosis presenting as non-immune hydrops in a newborn: A case report." Indian Journal of Child Health 9, no. 8 (August 31, 2022): 145–47. http://dx.doi.org/10.32677/ijch.v9i8.3568.
Повний текст джерелаEncarnação, Marisa, Maria Francisca Coutinho, Lisbeth Silva, Diogo Ribeiro, Souad Ouesleti, Teresa Campos, Helena Santos, et al. "Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants." International Journal of Molecular Sciences 21, no. 17 (September 1, 2020): 6355. http://dx.doi.org/10.3390/ijms21176355.
Повний текст джерелаSingh, Ankur, Rajniti Prasad, and Om Prakash Mishra. "Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis." Journal of Pediatric Genetics 09, no. 02 (January 2, 2020): 087–92. http://dx.doi.org/10.1055/s-0039-3402070.
Повний текст джерелаLo Curto, Alessia, Simona Taverna, Maria Assunta Costa, Rosa Passantino, Giuseppa Augello, Giorgia Adamo, Anna Aiello, et al. "Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease." Cells 10, no. 2 (February 9, 2021): 356. http://dx.doi.org/10.3390/cells10020356.
Повний текст джерелаMazumder, Mohammad A. Jafar. "Bio-Encapsulation for the Immune-Protection of Therapeutic Cells." Advanced Materials Research 810 (September 2013): 1–39. http://dx.doi.org/10.4028/www.scientific.net/amr.810.1.
Повний текст джерелаMillington, David, and Deeksha Bali. "Current State of the Art of Newborn Screening for Lysosomal Storage Disorders." International Journal of Neonatal Screening 4, no. 3 (July 18, 2018): 24. http://dx.doi.org/10.3390/ijns4030024.
Повний текст джерелаBilyeu, Heather, Jon Washburn, Lacey Vermette, and Tracy Klug. "Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II." International Journal of Neonatal Screening 6, no. 4 (October 14, 2020): 79. http://dx.doi.org/10.3390/ijns6040079.
Повний текст джерелаKahraman, Ayça Burcu, Yılmaz Yıldız, Kısmet Çıkı, Halil Tuna Akar, İzzet Erdal, Ali Dursun, Ayşegül Tokatlı, and Hatice Serap Sivri. "Invisible burden of COVID-19: enzyme replacement therapy disruptions." Journal of Pediatric Endocrinology and Metabolism 34, no. 5 (April 5, 2021): 539–45. http://dx.doi.org/10.1515/jpem-2021-0067.
Повний текст джерелаFuller, Maria, Melanie Lovejoy, Doug A. Brooks, Miriam L. Harkin, John J. Hopwood та Peter J. Meikle. "Immunoquantification of α-Galactosidase: Evaluation for the Diagnosis of Fabry Disease". Clinical Chemistry 50, № 11 (1 листопада 2004): 1979–85. http://dx.doi.org/10.1373/clinchem.2004.037937.
Повний текст джерелаLibbrecht, Sasha, Francois Eyskens, Sabine Declercq, and Cecile Colpaert. "Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis." Case Reports in Pathology 2020 (May 30, 2020): 1–3. http://dx.doi.org/10.1155/2020/8181056.
Повний текст джерелаSofronova, Viktoriia, Rina Iwata, Takuya Moriya, Kiunniai Loskutova, Elizaveta Gurinova, Mairanush Chernova, Anastasia Timofeeva, et al. "Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome." International Journal of Molecular Sciences 23, no. 10 (May 23, 2022): 5851. http://dx.doi.org/10.3390/ijms23105851.
Повний текст джерелаGelb, Michael, Zoltan Lukacs, Enzo Ranieri, and Peter Schielen. "Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots." International Journal of Neonatal Screening 5, no. 1 (December 21, 2018): 1. http://dx.doi.org/10.3390/ijns5010001.
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