Bibliografías temáticas / Lysosomal storage diseases

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Literatura académica sobre el tema "Lysosomal storage diseases"

Autor: Grafiati
Publicado: 4 de junio de 2021
Última modificación: 9 de junio de 2025

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Artículos de revistas sobre el tema "Lysosomal storage diseases"

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Xu, Miao, Ke Liu, Manju Swaroop, Wei Sun, Seameen J. Dehdashti, John C. McKew, and Wei Zheng. "A Phenotypic Compound Screening Assay for Lysosomal Storage Diseases." Journal of Biomolecular Screening 19, no. 1 (August 27, 2013): 168–75. http://dx.doi.org/10.1177/1087057113501197.

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The lysosome is a vital cellular organelle that primarily functions as a recycling center for breaking down unwanted macromolecules through a series of hydrolases. Functional deficiencies in lysosomal proteins due to genetic mutations have been found in more than 50 lysosomal storage diseases that exhibit characteristic lipid/macromolecule accumulation and enlarged lysosomes. Recently, the lysosome has emerged as a new therapeutic target for drug development for the treatment of lysosomal storage diseases. However, a suitable assay for compound screening against the diseased lysosomes is currently unavailable. We have developed a Lysotracker staining assay that measures the enlarged lysosomes in patient-derived cells using both fluorescence intensity readout and fluorescence microscopic measurement. This phenotypic assay has been tested in patient cells obtained from several lysosomal storage diseases and validated using a known compound, methyl-β-cyclodextrin, in primary fibroblast cells derived from Niemann Pick C disease patients. The results demonstrate that the Lysotracker assay can be used in compound screening for the identification of lead compounds that are capable of reducing enlarged lysosomes for drug development.
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Schulze, M., S. Groeschel, J. Gburek-Augustat, T. Nägele, and M. Horger. "Lysosomal Storage Diseases – Lysosomale Speichererkrankungen." RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren 187, no. 12 (November 26, 2015): 1057–60. http://dx.doi.org/10.1055/s-0035-1552368.

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Simonaro, Calogera M. "Lysosomes, Lysosomal Storage Diseases, and Inflammation." Journal of Inborn Errors of Metabolism and Screening 4 (May 14, 2016): 232640981665046. http://dx.doi.org/10.1177/2326409816650465.

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Breiden, Bernadette, and Konrad Sandhoff. "Lysosomal Glycosphingolipid Storage Diseases." Annual Review of Biochemistry 88, no. 1 (June 20, 2019): 461–85. http://dx.doi.org/10.1146/annurev-biochem-013118-111518.

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Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian plasma membranes. Gangliosides, sialic acid–containing glycosphingolipids, are especially enriched on neuronal surfaces. As amphi-philic molecules, they comprise a hydrophilic oligosaccharide chain attached to a hydrophobic membrane anchor, ceramide. Whereas glycosphingolipid formation is catalyzed by membrane-bound enzymes along the secretory pathway, degradation takes place at the surface of intralysosomal vesicles of late endosomes and lysosomes catalyzed in a stepwise fashion by soluble hydrolases and assisted by small lipid-binding glycoproteins. Inherited defects of lysosomal hydrolases or lipid-binding proteins cause the accumulation of undegradable material in lysosomal storage diseases (GM1 and GM2 gangliosidosis; Fabry, Gaucher, and Krabbe diseases; and metachromatic leukodystrophy). The catabolic processes are strongly modified by the lipid composition of the substrate-carrying membranes, and the pathological accumulation of primary storage compounds can trigger an accumulation of secondary storage compounds (e.g., small glycosphingolipids and cholesterol in Niemann-Pick disease).
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Gorbunova, 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.

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The classification and epidemiology of hereditary metabolic disorders are presented. That is a large group consisting from more them 800 monogenic diseases, each of which caused by inherited deficiency of certain metabolic fate. Many of these disorders are extremely rare, but their total incidence in the population is close to 1:10005000. Lysosomal storage diseases (LSD) resulting from inherited deficiency in lysosomal functions occupy a special place among hereditary metabolic disorders. The defects of catabolism cause the accumulation of undigested or partially digested macromolecules in lysosomes (that is, storage), which can result in cellular damage. About 60 diseases take part in this group with total incidence of about 1:70008000. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most of them have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. The etiology and pathogenetic aspects of their main clinical entities: mucopolysaccharidosis, glycolipidosis, mucolipidosis, glycoproteinosis, etc, are presented. Mucopolysaccharidoses caused by malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans are more frequent among LSD. Sphingolipidoses caused by defects of lipid catabolism are second for frequency group of LSD. The state-of-art in field of newborn screening. clinical, biochemical and molecular diagnostics of these grave diseases are discussed. The main directions of modern lysosomal storage diseases therapy are characterized: transplantation of hematopoietic stem cells; enzyme replacement therapy; therapy with limitation of substrate synthesis (substrate-reducing therapy); pharmacological chaperone therapy. Perspective directions for LSD therapy are gene therapy and genome editing which are at advanced preclinical stages.
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Gorbunova, Viktoria N., Natalia V. Buchinskaia, and Anastasia O. Vechkasova. "Lysosomal storage diseases. Mucolipidosis." Pediatrician (St. Petersburg) 15, no. 5 (November 20, 2024): 81–98. https://doi.org/10.17816/ped15581-98.

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The epidemiology, clinical, biochemical and molecular genetic characteristics of mucolipidoses — autosomal recessive lysosomal storage diseases that combine the clinical manifestations of mucopolysaccharidoses and sphingolipidoses — are presented. In accordance with the modern classification, types I, II and III mucolipidoses are classified as glycoproteinoses, and type IV mucolipidoses are classified as gangliosidoses. Mucolipidoses type I, or sialidosis, is caused by the presence of inactivating mutations in the α-neuraminidase gene NEU1, and a related disease is galactosialidosis, accompanied by secondary deficiency of α-neuraminidase and β-galactosidase in the CTSA gene of the protective protein cathepsin A. Both diseases are characterized by early progressive delay in psychomotor development, muscle myoclonus, severe ophthalmopathy and early death of patients. The pathogenesis of diseases is associated with excessive accumulation of sialocontaining glycoproteins and oligosaccharides in lysosomes. Hereditary deficiency of N-acetylglucosaminyl-1-phosphotransferase, necessary for the addition of mannose-6-phosphate to the oligosaccharides of lysosomal enzymes, underlies the development of two allelic diseases caused by mutations in the GNPTAB gene mucolipidoses type II, or “I-cell” disease and mucolipidoses type III, alpha/beta or pseudopolydystrophy of Hurler. Mutations in the GNPTG gene, which encodes the gamma subunit of this enzyme, are responsible for the development of the milder type III mucolipidoses (gamma). All these diseases are characterized by impaired phosphorylation and transport of lysosomal enzymes, which is accompanied by severe growth retardation, skeletal abnormalities and early death of patients. Pathogenesis of mucolipidoses type IV, or sialolipidosis, associated with the simultaneous accumulation of phospholipids, sphingolipids, mucopolysaccharides and gangliosides, which occurs as a result of mutations in the MCOLN1 gene, encoding mucolipin 1, which forms a channel localized on the membranes of lysosomes and endosomes, involved in the regulation of lipid and protein transport. The article presents a description of clinical cases of mucolipidosis types II and IIIA. Preclinical trials have shown promise for enzyme replacement therapy, chaperone therapy, and gene therapy for the treatment of sialidosis and galactosialidosis. However, pathogenetic methods of therapy for mucolipidoses have not been described in clinical practice to date.
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Gorbunova, Victoria N., Natalia V. Buchinskaia, and Anastasia O. Vechkasova. "Lysosomal storage diseases. Glycoproteinoses — oligosaccharidoses." Pediatrician (St. Petersburg) 16, no. 1 (June 1, 2025): 5–24. https://doi.org/10.17816/ped1615-24.

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The epidemiology, clinical, biochemical and molecular genetic characteristics of oligosaccharidoses are presented — a group of rare autosomal recessive lysosomal diseases, includes sialidosis, mannosidosis, fucosidosis, aspartylglucosaminuria and α-N-acetylgalactosaminidase deficiency. All these diseases are caused by impaired catabolism of glycoproteins and excessive accumulation of various types of oligosaccharides in lysosomes. Clinically, they are characterized by progressive neuropsychiatric disorders combined with a mild gurler-like phenotype. Two genetically heterogeneous variants of alpha- and beta-mannosidosis are caused by mutations in the MAN2B1 and MANBA genes, respectively, and hereditary deficiency of two related α- and β-mannosidases. The cause of the development of fucosidosis is inactivating mutations in the FUCA1 gene, leading to deficiency of lysosomal α-L-fucosidase and accumulation of fucoglycoproteins and fucoglycolipids. The pathogenesis of aspartylglucosaminuria is associated with impaired catabolism of aspartylglucosamine and its accumulation in the lysosomes of liver, spleen, thyroid, kidney and brain cells. The cause of α-N-acetylgalactosaminidase deficiency is mutations in the NAGA gene and the accumulation of uncleaved glycoconjugants in lysosomes. A description of existing experimental models is presented and their role in studying the pathogenesis of these severe lysosomal diseases and the development of various therapeutic approaches is discussed. The most successful treatment for alpha-mannosidosis has been enzyme replacement therapy using a recombinant enzyme — velmanase alfa, which has already passed phase III clinical trials and is used in clinical practice. Pathogenetic treatments for the other oligosaccharidoses discussed here have not been described, although preclinical trials have shown promise for hematopoietic stem cell transplantation and gene therapy for the treatment of β-mannosidosis and aspartyl glucosaminuria, respectively.
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Ferreira, Carlos R., and William A. Gahl. "Lysosomal storage diseases." Translational Science of Rare Diseases 2, no. 1-2 (May 25, 2017): 1–71. http://dx.doi.org/10.3233/trd-160005.

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Rose Georgy, Smitha. "Lysosomal storage diseases." Journal of Veterinary and Animal Sciences 52, no. 1 (January 1, 2021): 1–6. http://dx.doi.org/10.51966/jvas.2021.52.1.1-6.

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Neufeld, Elizabeth F. "Lysosomal Storage Diseases." Annual Review of Biochemistry 60, no. 1 (June 1991): 257–80. http://dx.doi.org/10.1146/annurev.bi.60.070191.001353.

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Tesis sobre el tema "Lysosomal storage diseases"

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Roy, Elise. "Cell disorders in lysosomal storage diseases." Phd thesis, Université René Descartes - Paris V, 2012. http://tel.archives-ouvertes.fr/tel-00683248.

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Mucopolysaccharidosis type IIIB (MPSIIIB) is a lysosomal storage disease (LSD) characterized by accumulation of heparan sulfate oligosaccharides (HSO), which results in progressive mental retardation, neurodegeneration and premature death in children. The underlying mechanisms are poorly understood. Coming to a better understanding of the pathophysiology of MPSIIIB has become a necessity to assess the efficacy of gene therapy treatment regarding loss of neuronal plasticity, and to define the best conditions for treatment. To address the link between HSO accumulation and downstream pathological events, new cell models of MPSIIIB were created. First, induced pluripotent stem cells (iPSc) were generated from fibroblasts of affected children, followed by differentiation of patient-derived iPSc into a neuronal progeny. Second, a HeLa cell model was created in which expression of shRNAs directed against a-N-acetylglucosaminidase (NAGLU), the deficient enzyme in MPSIIIB, is induced by tetracycline. Success in the isolation of these different models was pointed by the presence of cardinal features of MPSIIIB cell pathology. Studies in these models showed that: I) HSO excreted in the extracellular matrix modifies cell perception of environmental cues, affecting downstream signalling pathways with consequences on the Golgi morphology. II) Accumulation of intracellular storage vesicles, a hallmark of LSDs is due to overexpression of the cis-Golgi protein GM130 and subsequent Golgi alterations. It is likely that these vesicles are abnormal lysosomes formed in the cis- and medial-Golgi which are misrouted at an early step of lysosome biogenesis, giving rise to a dead-end compartment. III) Other cell functions controlled by GM130 are affected, including centrosome morphology and microtubule nucleation. These data point to possible consequences on cell polarization, cell migration and neuritogenesis.
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Chen, Chun-Wu. "Defective iron homeostasis in lysosomal storage diseases." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:5127c241-be64-4990-bef5-70e15d391394.

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Niemann-Pick type Cl (NPC1) disease is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium levels. Since the lysosomal system is involved in regulating aspects of transition metal ion homeostasis and its intracellular compartmentalization, we have investigated whether there are metal ion metabolism defects and haematological abnormalities in NPC1 disease. We have identified multiple haematological changes, including decreased haematocrit, haemoglobin and mean corpuscular haemoglobin volume in mice.
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Ross, Colin J. D. "Immuno-isolation gene therapy for lysosomal storage disease /." *McMaster only, 2001.

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Rigal, Nathalie [Verfasser]. "Improving enzyme replacement therapy for lysosomal storage diseases / Nathalie Rigal." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2018. http://d-nb.info/115576093X/34.

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Lewis, Martin David. "Human lysosomal sulphate transport." Title page, contents and abstract only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phl6752.pdf.

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Addendum inserted at back Includes bibliographical references (leaves 266-287). 1. Introduction -- 2. Materials and general methods -- 3. Characterisation and partial purification of the lysosomal sulphate transporter -- 4. Identification of proteins involved in lysosomal sulphate transport -- 5. The relationship between a sulphate anion transporter family and the lysosomal sulphate transporter -- 6. Investigation of sulphate transport in human skin fibroblasts -- 7. Concluding remarks
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Kanju, Patrick M. Suppiramaniam Vishnu. "Synaptic glutamate receptor dysfunction in tissue and animal models of Alzheimer's disease." Auburn, Ala., 2005. http://repo.lib.auburn.edu/2005%20Summer/doctoral/KANJU_PATRICK_11.pdf.

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Champigny, Marc J. Igdoura Suleiman. "Transcriptional regulation of neu1 expression: Implications for lysosomal storage disease /." *McMaster only, 2005.

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Maalouf, Katia Ghandour [Verfasser]. "Role of lipid rafts in the pathophysiology of lysosomal storage diseases / Katia Ghandour Maalouf." Hannover : Technische Informationsbibliothek und Universitätsbibliothek Hannover (TIB), 2012. http://nbn-resolving.de/urn:nbn:de:gbv:089-7259318337.

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Ghandour, Maalouf Katia [Verfasser]. "Role of lipid rafts in the pathophysiology of lysosomal storage diseases / Katia Ghandour Maalouf." Hannover : Technische Informationsbibliothek und Universitätsbibliothek Hannover (TIB), 2012. http://d-nb.info/1029515352/34.

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Gray, James Andrew Russell. "Modulating the heat-shock response : a potential therapy for lysosomal storage disorders." Thesis, University of Oxford, 2014. https://ora.ox.ac.uk/objects/uuid:d9b746c9-9026-4a6e-97b5-00bb848100d7.

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Lysosomal storage disorders (LSDs) comprise a broad disease group of inherited metabolic disorders, the majority of which are associated with CNS pathology, significant disability and reductions in life expectancy. LSDs are caused by mutations in genes encoding proteins critical for the correct functioning of lysosomal homeostasis. The disruption of lysosomal homeostasis results in the abnormal accumulation of lysosomal content, initiating intracellular pathological events, including calcium dysregulation and lysosomal membrane permeablisation (LMP) affecting cell function and inducing cellular death mechanisms. These pathological events are particularly damaging within the CNS, due to its limited capacity for regeneration. Despite intensive scientific research into these disorders, and an increased understanding of the pathological events underlying these diseases, effective treatments are still lacking for most LSDs. Several therapeutic approaches have been investigated in the last 30 years, including enzyme replacement therapy, bone marrow transplantation, substrate reduction therapy, chemical chaperones and gene therapy. However, the CNS pathology in many of the LSDs remains unaddressed due to the restricted ability of many therapeutic agents to cross the blood-brain barrier. The heat-shock response (HSR) is an emerging element involved in the pathogenesis of a variety of disorders. The HSR is a physiological response to a wide range of cellular stresses. It functions to protect the cell from the aggregation of misfolded proteins and LMP. Of the HSR, several key players are integral to mounting a heat shock response, these include the heat-shock factor 1 (HSF-1) and HSP70. In this thesis, we provide proof-of-principle for the use of recombinant HSP70, and the small molecule up-regulator of the HSR, arimoclomol in treatment of a range of LSDs. We show that HSP70 is able to access the CNS, and increase the degradative capacity of lysosomal hydrolases. This provides differential behavioural, biochemical and survival effects in LSD models of Niemann-Pick type C, Sandhoff and Fabry disease. Additional studies using the HSF-1 upregulator arimoclomol, show a complex dose-response between the different models, possibly reflecting essential differences in the calcium dysregulation between these disease states.
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Libros sobre el tema "Lysosomal storage diseases"

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A, Barranger John, and Cabrera-Salazar Mario A, eds. Lysosomal storage disorders. New York: Springer, 2007.

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Mehta, Atul B., and Bryan Winchester. Lysosomal storage disorders: A practical guide. Chichester, West Sussex: Wiley-Blackwell, 2013.

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Mononen, Ilkka. Lysosomal storage disease--aspartylglycosaminuria. New York: Springer, 1997.

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Inc, ebrary, ed. Lysosomal storage disorders: Principles and practice. Singapore: World Scientific, 2010.

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Boelens, Jaap Jan, and Robert Wynn, eds. Stem Cell Therapy in Lysosomal Storage Diseases. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8357-1.

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A, Gibbs Dorothy, ed. Lysosomal storage diseases: Biochemical and clinical aspects. London: Taylor & Francis, 1986.

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G, Thoene Jess, ed. Pathophysiology of lysosomal transport. Boca Raton: CRC Press, 1992.

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Al-Essa, Mohammed A. Atlas of common lysosomal and peroxisomal disorders. Riyadh, Saudi Arabia: Scientific Informations Office, Research Centre, King Faisal Specialist Hospital and Research Centre, 1999.

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Beck, M., Deborah Elstein, and Gheona Altarescu. Fabry disease. Dordrecht: Springer, 2010.

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1935-, Graucob E., ed. Hematologic cytology of storage diseases. Berlin: Springer-Verlag, 1985.

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Capítulos de libros sobre el tema "Lysosomal storage diseases"

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Ozand, Pinar T., and Mohammed Al-Essa. "Lysosomal Storage Diseases." In Textbook of Clinical Pediatrics, 515–55. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-02202-9_39.

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Ferns, Janis M., and Stephen H. Halpern. "Lysosomal Storage Diseases." In Consults in Obstetric Anesthesiology, 357–60. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-59680-8_98.

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Pastores, Gregory M. "Lysosomal Storage Diseases." In Neurochemical Mechanisms in Disease, 785–97. New York, NY: Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-7104-3_23.

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Imam, Ibrahim. "Lysosomal storage diseases." In 700 Essential Neurology Checklists, 335–37. New York: CRC Press, 2021. http://dx.doi.org/10.1201/9781003221258-99.

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Winchester, Bryan. "Classification of Lysosomal Storage Diseases." In Lysosomal Storage Disorders, 37–46. Oxford: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch5.

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O'Rourke, Erin, Dawn Laney, Cindy Morgan, Kim Mooney, and Jennifer Sullivan. "Genetic Counseling for Lysosomal Storage Diseases." In Lysosomal Storage Disorders, 179–95. Boston, MA: Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_13.

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Kent, Alastair, Christine Lavery, and Jeremy Manuel. "The Patient Perspective on Rare Diseases." In Lysosomal Storage Disorders, 186–92. Oxford: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch24.

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Winchester, Bryan. "Laboratory Diagnosis of Lysosomal Storage Diseases." In Lysosomal Storage Disorders, 20–28. Oxford: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch3.

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Brady, Roscoe O. "The Concept of Treatment in Lysosomal Storage Diseases." In Lysosomal Storage Disorders, 37–43. Boston, MA: Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_3.

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de Duve, Christian. "From Lysosomes to Storage Diseases and Back: A Personal Reminiscence." In Lysosomal Storage Disorders, 1–5. Boston, MA: Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_1.

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Actas de conferencias sobre el tema "Lysosomal storage diseases"

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Giugliano, Giusy, Michela Schiavo, Daniele Pirone, Jaromir Behal, Vittorio Bianco, Sandro Montefusco, Pasquale Memmolo, Lisa Miccio, Pietro Ferraro, and Diego L. Medina. "Investigation on lysosomal accumulation by a quantitative analysis of 2D phase-maps in digital holography microscopy." In Digital Holography and Three-Dimensional Imaging, Th2A.6. Washington, D.C.: Optica Publishing Group, 2024. http://dx.doi.org/10.1364/dh.2024.th2a.6.

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Quantitative Phase Imaging through Digital Holography (QPI-DH) represents a quantitative and label-free method to detect lysosomal dysfunction in cells. Testing in the cellular model of Mucopolysaccharidosis type III-A, a lysosomal storage disease, demonstrate its potential.
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Krželj, Vjekoslav, and Ivana Čulo Čagalj. "INHERITED METABOLIC DISORDERS AND HEART DISEASES." In Symposium with International Participation HEART AND … Akademija nauka i umjetnosti Bosne i Hercegovine, 2019. http://dx.doi.org/10.5644/pi2019.181.02.

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Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited metabolic disorders can provoke cardiomyopathy, including lysosomal storage disorders, fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, congenital disorders of glycosylation as well as peroxisomal and mitochondrial disorders. If identified and diagnosed on time, some of congenital metabolic diseases could be successfully treated. It is important to assume them in cases when heart diseases are etiologically undefined. Rapid technological development has made it easier to establish the diagnosis of these diseases. This article will focus on common inherited metabolic disorders that cause heart diseases, as well as on diseases that might be possible to treat.
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Medina, Diego. "Combining high-content imaging and repurposing of approved drugs to tackle lysosomal storage diseases." In Optical Methods for Inspection, Characterization, and Imaging of Biomaterials VI, edited by Pietro Ferraro, Simonetta Grilli, and Demetri Psaltis. SPIE, 2023. http://dx.doi.org/10.1117/12.2675267.

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Alblooshi, Afaf, Abdul-Kader Souid, and Fatma Al Jasmi. "The Usefulness of Forced Oscillation Technique to assess lung functions in Patients with Lysosomal Storage Diseases." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa2413.

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Decker, Christine, Katharina Kranz, Kristine Adam, Charlotte Thiels, Cornelia Köhler, and Thomas Lücke. "P 326. Developments in Stem Cell Transplantation in Lysosomal Storage Diseases—An Update on the Example of Mucopolysaccharidoses." In Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1676012.

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Guimarães, Matheus Procópio, Isabella Cristina Muniz Honorato, Diógenes Emanuel Dantas da Silva, Lucca Ferdinando Queiroz Fernandes, Pedro Henrick Guimarães Carvalho, Iury Hélder Santos Dantas, and Bianca Etelvina Santos de Oliveira. "A 26-year-old woman presenting with a history of epileptic crisis, ataxia and cognitive impairment." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.645.

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A 26-year-old woman was referred to a neurology outpatient clinic due to a 9-month history of generalized tonic-clonic seizures, gradually more frequent since onset. She additionally reports developing insidiously over four years ago, an asymmetrical tremor in the upper limbs (worse on the right hand), difficulty walking, speech disorders and decreased visual acuity on the right eye. She had a past medical history of major depressive disorder, but normal neuropsychomotor development in childhood, and did not drink alcohol or smoke tobacco. There is no family history of neurological conditions (she has three brothers and two healthy children). She reports consanguinity (maternal grandparents). Upon neurological examination, the patient was alert, attention was impaired and was not oriented to place or time. Speech was scanned. Her visual acuity was decreased in the right eye (20/100), right gaze-evoked nystagmus and slow saccades. Fundi in both eyes were normal and examination of the other cranial nerves was unremarkable. Based on Medical Research Council grading, the patient had a power of 5/5 in all muscle groups of the lower and upper limbs, deep tendon reflexes in upper limbs were brisk, normal in lower limbs, and plantar responses were flexor bilaterally. Sensory exam was also unremarkable in all four limbs. Appendicular ataxia was present in all members, with rest and intention tremor in upper limbs. During gait she had a noticeable widened base, and steps were unsteady and irregular. Meningismus was absent. A minimental exam was done: 21/30 (eight years of study), with impairment mainly in attention, language and planning. Routine blood tests including full blood count, fasting glucose, B12 level, renal profile, electrolytes, liver function tests, C- reactive protein, serum protein electrophoresis, thyroid function test and erythrocyte sedimentation rate were normal. Serologic tests for syphilis (venereal disease research laboratory), viral hepatitis B and C, and HIV serology were negative. Cerebrospinal fluid analysis showed 01 white blood cell/L, protein 32, glucose 68 mg/dL and absence of oligoclonal bands. Magnetic resonance imaging (MRI) sequences showed significant cerebellar atrophy. Electroencephalogram was normal. A genetic panel was done which shows a mutation on TPP1 gene, compatible with neuronal ceroid lipofuscinosis-2 (CLN-2, OMIM #204500). Neuronal ceroid lipofuscinosis (CLN) is a progressive neurodegenerative lysosomal storage disease caused by the accumulation of lipofuscin in the cerebellum and cerebral cortex, which results in neuronal death. There is an estimated incidence of < 0.5 per 100,000 live births in Europe; in Brazil its prevalence is unknown. With the identification of molecular defects, the CLNs are classified according to the underlying gene defect, regardless of the age at onset. CLN2 is caused by a deficiency of the tripeptidyl peptidase 1 (TPP1) enzyme secondary to mutations in the CLN2 gene, being the most prevalent type observed and the only treatable one. The clinical course includes refractory epilepsy to antiepileptic medications, progressive mental regression and deterioration, ataxia, myoclonus, and visual loss. On MRI, most patients have diffuse cerebellar atrophy, corroborating the clinical finding of central nervous system progressive degeneration.
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