Thematische Bibliographien / Mukopolysacharidóza

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Auswahl der wissenschaftlichen Literatur zum Thema „Mukopolysacharidóza“

Autor: Grafiati

Veröffentlicht am 28. Juni 2021

Zuletzt aktualisiert am 1. Februar 2022

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Zeitschriftenartikel zum Thema "Mukopolysacharidóza"

Baborská, L., und V. Merglová. „Stomatological Problems in Child with the II Type Mucopolysaccharidosis“. Česká stomatologie/Praktické zubní lékařství 113, Nr. 5 (01.12.2013): 59–64. http://dx.doi.org/10.51479/cspzl.2013.040.

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Dissertationen zum Thema "Mukopolysacharidóza"

Petrášová, Kristína. „Mukopolysacharidosa a současné možnosti její léčby“. Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-356296.

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Charles University Faculty of Pharmacy in Hradec Králové Department of Biochemical Sciences Candidate: Supervisor: Title of diploma thesis: Kristína Petrášová RNDr. Eva Novotná, Ph.D. Emerging treatment options for the mucopolysaccharidoses This thesis provides a summary of knowledge about rare disease named mucopolysaccharidoses and about treatment options. Due to the low incidence in the population is in the common literature the disease mentioned only sporadically. The thesis is processed as a search, the primary method of work is collecting data by studying literature. The first part deals with general aspects of disease occurrence in the Czech Republic and abroad and mucopolysaccharides, in the second part are itemized in detail all known types of MPS, their clinical manifestations as well as a treatment that is currently quite problematic and unsatisfactory. In the treatment I focused mainly on the form of MPS III, because this form is the most widespread in the Czech Republic. Key words: mucopolysaccharidosis, glycosaminoglycans, lysosomal storage disease, enzyme replacement therapy, substrate reduction therapy

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Krejčí, Lucie. „Specifika vzdělávání dětí se vzácným onemocněním na základní škole speciální“. Master's thesis, 2021. http://www.nusl.cz/ntk/nusl-445911.

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This diploma thesis is focused on education specifics of children with a rare disease at a special primary school. In the theoretical part, the author describes three specific rare diseases - mucopolysaccharidosis, Prader-Willi syndrome and Smith-Magenis syndrome. Deals with the manifestations of the disease, treatment options and the arrangement of the education for these children. In the practical part the author inquires how teachers work with a child with a rare disease during the day at special primary school. The thesis also inquires what specifics the educational process brings to teachers and where do the teachers find the sources for their methods of work.

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Richtrová, Eva. „Charakterizace promotorových oblastí genů HGSNAT a GBA, a příspěvek ke studiu patogeneze MPS IIIC a Gaucherovy choroby“. Doctoral thesis, 2014. http://www.nusl.cz/ntk/nusl-332280.

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Pathogenesis of mucopolysaccharidosis type IIIC (MPS IIIC) and Gaucher disease has not been yet fully clarified, and the causes of phenotypical variability between the patients with the same genotype in Gaucher disease remain obscure. Because the variants in the regulatory regions of genes can cause phenotypical differences mentioned above, I have studied promoter regions of HGSNAT and GBA genes mutated in these lysosomal disorders. I have shown that there is an alternative promoter of GBA (P2). Additional studies were aimed to elucidate possible physiological functions of P2, and its possible role in the pathogenesis of Gaucher disease. I have found that P2 is not tissue specific, and that its variants do not influence the variability of phenotype in Gaucher patients with the same genotype. P2 is used differentially neither during the differentiation of monocytes to macrophages nor in macrophages from controls and Gaucher patients, in whom there is a prominent storage only in cells of macrophage origin. We have thus not found any changes that would suggest a role for P2 in the pathogenesis of Gaucher disease. I have characterized the promoter region of HGSNAT and shown that the binding of Sp1 transcription factor is important for its expression. Sequence variants found in HGSNAT promoter in...

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Nosková, Lenka. „Využití nových genomických technik ve studiu patogeneze vybraných vzácných dědičných onemocnění“. Doctoral thesis, 2013. http://www.nusl.cz/ntk/nusl-328725.

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Rare diseases are a heterogeneous group of disorders. Knowledge of their molecular basis is poor and till recently there were no appropriate methodical approaches due to a limited number of patients. Novel genomic techniques, especially the DNA array technology and the next generation sequencing emerging in last few years, enabled studies of these diseases even in small families and sporadic cases. This PhD thesis focuses on application of novel genomic techniques in studies of rare inherited diseases. It describes a use of DNA array technology in linkage analysis, analysis of differential gene expression, analysis of copy number variations and homozygous mapping, and a use of next generation sequencing technology. Combination of these methods was used for identification of molecular basis of adult neuronal ceroid lipofuscinosis, Rotor syndrome, isolated defect of ATP synthase and mucopolysaccharidosis type IIIC.

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Stránecký, Viktor. „Současné metody analýzy genomu a jejich využití v hledání genetických příčin nemocí“. Doctoral thesis, 2015. http://www.nusl.cz/ntk/nusl-334656.

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The study of rare genetic diseases presents unique opportunity to uncover the genetic and molecular basis of human traits and greatly helped to the identification of genes, to the elucidation of their function and to the characterization of metabolic pathways and cellular processes. Over the past decades, linkage analysis has been appropriate approach to search for the genes causing Mendelian diseases and contributed to the identification of many genes, but the genetic cause of many diseases remains unknown. New methods of studying the human genome, microarray technology and massively parallel sequencing (next generation sequencing), represent a way to efficiently identify the cause of genetically determined diseases, based on direct observation of mutations in the genome of affected individuals. These techniques replaced the traditional method of disease gene identification represented by linkage analysis and sequencing of candidate genes and have become the standard approach to elucidate the molecular basis of diseases. In this work, i describe the the results achieved by using these methods - identification of the genes underlying mucopolysacharidosis type IIIC, isolated defect of ATP synthase, Rotor syndrome, autosomal dominat ANCL and GAPO syndrome.

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Uřinovská, Jana. „Ceanorhabditis Elegans vhodným modelovým organismem pro studium lysosomálních střádacích onemocnění? Studie Fabryho, Schindlerovi, Pompeho choroby a mukopolysacharidozi IIIC v C. elegans a člověku, respektive“. Doctoral thesis, 2008. http://www.nusl.cz/ntk/nusl-273746.

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The Ph.D. thesis is focused on lysosomal storage disorders (LSD) with impaired lysosomal metabolism of glycans, namely on Fabry, Schindler, Pompe diseases and muccopolysaccharidosis (MPS) type IIIC. We hypothesized that the worm, which has active glycan metabolism, will have orthologs corresponding to human enzymes deficient in the above disorders and could be a suitable model for study of cellular pathology of these LSDs. The protein families of glycosidases which are deficient in the first three disorders are well characterised while the protein deficient in MPS IIIC was unknown and its enzymatic action was only partially characterized. The gene deficient in MPS IIIC was recently identified in our lab (publication 2) and, as is shown below, it belongs to the lysosomal proteins that have no apparent ortholog in the worm. The main task of the thesis was to find and characterize the C. elegans orthologs of human α-galactosidase (α-GAL), α-N-acetylgalactosaminidase (α-NAGA), acid α- glucosidase (GAA) and heparin acetyl-coenzyme A:α-glucosaminide N-acetyltransferase (HGSNAT) whose deficit leads to Fabry, Schindler, Pompe and MPS IIIC diseases, respectively, and to study their biological functions in C. elegans by RNA-mediated interference (RNAi). Additional aims were to perform basic bioinformatic analysis and...

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Hartmannová, Hana. „Studium molekulární podstaty vybraných dědičně podmíněných onemocnění“. Doctoral thesis, 2013. http://www.nusl.cz/ntk/nusl-328217.

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Rare diseases represent a clinically and genetically heterogeneous group of diseases affecting various organs and presenting at different ages. Identification and functional characterization of genetic defects causing individual rare diseases represent unique opportunity to understand biological functions of human genes and gene products as well as to basic pathogenetic mechanisms of individual diseases. This knowledge is prerequisite for their effective diagnosis, specific treatment and prevention and it also opens up an avenue for better understanding of complex diseases. My thesis documents basic conceptual and methodological developments of biochemical genetics, functional cloning, genetic mapping, positional cloning, DNA microarrays and genomic sequencing, which have provided a universal framework for effective characterization of the genetic architecture of almost all human diseases. This conceptual and technological developments are demonstrated on several cases of rare genetic diseases - adenylosuccinate lyase deficiency, mucopolysacharidosis type IIIC, Rotor syndrome, deficiency of ATP synthase, neuronal ceroid lipofuscinosis, GAPO syndrome and X -linked restrictive cardiomyopathy, which genetic and molecular basis I have helped to elucidate.

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