Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 14 of 14 for “"rare disorders"”.
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An integrated top-down and bottom-up proteomic platform to reveal potential salivary biomarkers of the rare disorders SAPHO syndrome, Wilson’s disease and Hereditary angioedema
… syndrome and Hereditary angioedema are three rare disorders characterized by a wide spectrum of different clinical manifestations, which involve several organs and apparatus, making the diagnosis extremely difficult. In this study, the salivary proteome and peptidome of subjects affected by …
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Cellular and Organismal Ramifications of de novo Purine Synthesis Dysregulation
… In humans, <em>de novo</em> purine synthesis disorders are rare, with around 100 people identified. These patients exhibit a range of phenotypes, with varying degrees of mental retardation, seizure activity, facial and body dysmorphic features, autistic features, respiratory failure, and …
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Genetic determinants underlying rare diseases identified using next-generation sequencing technologies
Rare disorders affect less than one in 2000 individuals, placing a huge burden on individuals, families and the health care system. Gene discovery is the starting point in understanding the molecular mechanisms underlying these diseases. The advent of next-generation sequencing has accelerated …
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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection
… panel to include DNA-based targets. Four rare disorders; deletion 22q11.2 syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for inclusion to the newborn screening panel within the next few …
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Deciphering the genetic and epigenetic basis of human imprinting and chromatin disorders
… have been linked to congenital imprinting disorders as well as various disease conditions, including cancer, chromatin disorders, and neurodevelopmental disorders. Some imprinting disorders, however, result in alterations in multiple imprinted regions (MLID) for which their exact causes are …
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Genotype and phenotype in mitochondrial disorders
Mitochondrial disorders are inherited metabolic conditions caused by pathogenic variants in genes affecting oxidative phosphorylation and ATP synthesis. They are a heterogeneous group of disorders with an incidence of 1 in 5000. They can affect a single organ or multiple systems, with age of onset …
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HYDROXYPROLINE DEHYDROGENASE: A PROMISING TARGET FOR TREATING ALL THREE FORMS OF PRIMARY HYPEROXALURIA
The Primary Hyperoxalurias (PH) are rare disorders of glyoxylate metabolism that cause the formation of calcium oxalate kidney stones. Currently, treatments for PH are limited. Available treatments focus on easing the symptoms of PH, not treating the disease itself. Hydroxyproline metabolism is a …
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Mammalian Cell Line Development Platform for Recombinant Protein Production: Expanding the Protein Expression Toolbox for Research and Drug Discovery Applications
… recombinant protein therapeutics to treat rare diseases including lysosomal storage disorders (LSDs), a group of about 50 individually rare disorders together affecting 1 in 8,000 live births. With an increase in the number of novel therapeutics in our drug discovery pipeline, there is a …
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Common genetic variation and spliceosome variants in rare developmental disorders
Although thousands of rare disorders are caused by single, deleterious, protein- coding variants, evidence suggests that common variants also contribute to risk for rare, neurodevelopmental disorders (NDDs). These are likely affecting the penetrance of protein-coding variants as well as …
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Methods for Determining the Genetic Causes of Rare Diseases
… hundreds of thousands of individuals with rare disorders are undergoing whole-genome sequencing in an effort to reveal novel disease aetiologies, increase our understanding of biological processes and improve patient care. However, the power to discover the genetic causes of many …
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Establishment of Data Base for Survey of Rare Disease
… 질환 관련 민간 비영리 봉사 단체가 함께 National Organization for Rare Disorders(NORD)란 연합체를 구성하여 희귀난치성 질환을 앓고 있는 환자와 가족들에 대한 다각적인 지원 및 교육 사업을 시행하고 있을 뿐만 아니라 희귀난치성 질환의 데이터베이스(DB)를 구축하는 사업도 전개하여, 2008년에는 1200여 종의 희귀난치성 질환 DB를 제공하고 있다. 우리나라에서는 국민기초생활보장법 시행으로 희귀난치성 질환에 대해서 의료비 지원을 하고 있으며, 희귀난치성질환헬프라인에서 500종에 대하여 …
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Mitochondrial dysfunction in hereditary optic neuropathies
… mitochondrial pathologies were regarded as rare disorders but indeed they are more frequent than originally thought. Due to the unique mitochondria peculiarities mitochondrial pathologies can be caused by mutations in both mitochondrial and nuclear genomes. The poor knowledge of pathologic …
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PTH RESISTANCE SYNDROMES: AGE-DEPENDENT CLINICAL PICTURE AND EMERGING UNCOMMON FEATURES
… (iPPSD). PTH resistance is the hallmark of these disorders, but clinical picture is wider and more complex, with high variability and age-dependent presentation. A diagnostic delay is commonly reported; thus, our studies aim to describe some emerging uncommon clinical features with the final goal …
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DIETARY INTERVENTIONS TARGETING GLUCOSE METABOLISM AND HYPERINSULINEMIA: A NEW TRANSLATIONAL PERSPECTIVE FOR THE MANAGEMENT OF ACUTE INTERMITTENT PORPHYRIA
… they are at risk to develop metabolic-associated disorders, as diabetes, chronic kidney disease and liver cancer due to the high exposure to toxic porphyrins, opening the possibility to introduce insulin-sensitizers as a novel class for AIP management. Therefore, aims of this study were to assess …