Journal articles on the topic '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.
Full textHayashi, 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.
Full textGorbunova, 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.
Full textBlumenreich, 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.
Full textOnyenwoke, 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.
Full textDe 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.
Full textAltarescu, 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.
Full textAmodio, 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.
Full textMeikle, 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.
Full textLa 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.
Full textGolabek, 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.
Full textMashima, 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.
Full textIvanova, 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.
Full textChang, 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.
Full textGul, 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.
Full textFaverio, 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.
Full textKariyappa, 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.
Full textDarbà, 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.
Full textRyckman, 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.
Full textFeng, 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.
Full textMartínez-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.
Full textBurton, 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.
Full textŽigman, 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.
Full textPierzynowska, 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.
Full textTancini, 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.
Full textRigon, 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.
Full textHebbar, 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.
Full textErwin, 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.
Full textYoon, 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.
Full textMatern, 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.
Full textHintze, 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.
Full textPrat 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.
Full textDe 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.
Full textMetz, 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.
Full textKongmanas, 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.
Full textLeistner, 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.
Full textTortorelli, 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.
Full textWei, Jianshe, Yoshiki Takamatsu, Ryoko Wada, Masayo Fujita, Gilbert Ho, Eliezer Masliah, and Makoto Hashimoto. "Therapeutic Potential of αS Evolvability for Neuropathic Gaucher Disease." Biomolecules 11, no. 2 (February 15, 2021): 289. http://dx.doi.org/10.3390/biom11020289.
Full textSharma, 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.
Full textEncarnação, 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.
Full textSingh, 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.
Full textLo 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.
Full textMazumder, 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.
Full textMillington, 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.
Full textBilyeu, 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.
Full textKahraman, 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.
Full textFuller, Maria, Melanie Lovejoy, Doug A. Brooks, Miriam L. Harkin, John J. Hopwood, and Peter J. Meikle. "Immunoquantification of α-Galactosidase: Evaluation for the Diagnosis of Fabry Disease." Clinical Chemistry 50, no. 11 (November 1, 2004): 1979–85. http://dx.doi.org/10.1373/clinchem.2004.037937.
Full textLibbrecht, 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.
Full textSofronova, 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.
Full textGelb, 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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