Results 11 to 20 of about 6,449 (175)
Molecular Genetics and Metabolism Reports, 2021 Introduction: The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in ...
Patryk Lipiński +2 more
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Orphanet Journal of Rare Diseases, 2021 Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Anna Bogdańska +6 more
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The Journal of Pathology: Clinical Research, 2022 Grading of squamous cell carcinomas (SCCs) based on tumour budding and cell nest size has been termed cellular dissociation grading (CDG) and was suggested as a robust outcome predictor when assessed in biopsies and resections of various extrapulmonary ...
Moritz Jesinghaus +14 more
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EURASIP Journal on Wireless Communications and Networking, 2023 Compressive data gathering (CDG) is an adequate method to reduce the amount of data transmission, thereby decreasing energy expenditure for wireless sensor networks (WSNs). Sleep scheduling integrated with CDG can further promote energy efficiency.
Xun Wang, Hongbin Chen, Shichao Li
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Pediatrics and Neonatology, 2021 Background: Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and their attachment to proteins and lipids. Histologically, liver steatosis, fibrosis and cirrhosis have been reported in CDG.The aim of the study ...
Patryk Lipiński +5 more
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Recognizable phenotypes in CDG [PDF]
Journal of Inherited Metabolic Disease, 2018 AbstractPattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive and negative findings, rather than on the ...
Carlos R. Ferreira +5 more
openaire +2 more sources
Journal of Behçet Uz Children's Hospital, 2020 INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of genetic diseases that lead to impairment in protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the number
Melis Kose +9 more
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Congenital disorders of glycosylation: narration of a story through its patents
Orphanet Journal of Rare Diseases, 2023 Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of
Maria Monticelli +5 more
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Neurosurgery outcomes and complications in a monocentric 7-year patient registry
Brain and Spine, 2022 Introduction: Capturing adverse events reliably is paramount for clinical practice and research alike. In the era of “big data”, prospective registries form the basis of clinical research and quality improvement.
Johannes Sarnthein +34 more
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Impact of c-di-GMP on the Extracellular Proteome of Rhizobium etli
Biology, 2022 Extracellular matrix components of bacterial biofilms include biopolymers such as polysaccharides, nucleic acids and proteins. Similar to polysaccharides, the secretion of adhesins and other matrix proteins can be regulated by the second messenger cyclic
María J. Lorite +8 more
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