Zobrazeno 1 - 10 of 33 pro vyhledávání: '"Laura Nagy"'
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Akademický článek
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review
Autor: Maria Al Bandari, Laura Nagy, Vivian Cruz, Stacy Hewson, Alomgir Hossain, Michal Inbar-Feigenberg
Publikováno v: International Journal of Neonatal Screening, Vol 10, Iss 2, p 29 (2024)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids. This study reports on the clinical outcomes of patients diagnosed by newborn screening with VL
Externí odkaz: https://doaj.org/article/1a262141ea4b4bc3a477e5045742b25c
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3
Akademický článek
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
Autor: Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence
Externí odkaz: https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e
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4
Akademický článek
Upper eyelid juvenile xanthogranuloma: a case report
Autor: Pedro Henrique Oliveira Ribeiro, Laura Nagy Fritsch, Geraldo José Medeiros Fernandes, Adriano Macedo de Oliveira, Flávia Beatriz de Andrade Oliveira Ribeiro
Publikováno v: Revista Brasileira de Oftalmologia, Vol 80, Iss 5 (2021)
ABSTRACT Juvenile xanthogranuloma is a rare benign non-Langerhans cell histiocytosis. Clinical manifestation usually occurs up to the age of 2 years, with yellowish papules and variable clinical progression. Approximately 0.75% of patients had system
Externí odkaz: https://doaj.org/article/75e50130e7644b22949a6e079856a13b
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5
Akademický článek
The Effect of Mutation in Lipopolysaccharide Biosynthesis on Bacterial Fitness
Autor: Laura Nagy, Péter Urbán, Lilla Makszin, Viktor Sándor, Anikó Kilár, Hajnalka Ábrahám, Beáta Albert, Béla Kocsis, Ferenc Kilár
Publikováno v: Cells, Vol 11, Iss 20, p 3249 (2022)
This paper presents the genome sequence of a Shigella sonnei mutant strain (S. sonnei 4351) and the effect of mutation in lipopolysaccharide biosynthesis on bacterial fitness. Lipopolysaccharides are the major component of the outer leaflet of the Gr
Externí odkaz: https://doaj.org/article/9a9e198ef9a94b48b6cb1ad19637548a
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6
Akademický článek
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect
Autor: Saadet Mercimek-Mahmutoglu, Dawn Corderio, Laura Nagy, Carly Mutch, Melissa Carter, Eduard Struys, Lianna Kyriakopoulou
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 124-128 (2014)
Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (
Externí odkaz: https://doaj.org/article/ff038bda4a8649dbbd2775b13d703a8c
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8
Akademický článek
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10
Comparative analysis of biofilm formation by Candida albicans and Candida krusei in different types of contact lenses
Autor: Flávia Beatriz de Andrade Oliveira Ribeiro, Naiara Chaves Silva, Laura Nagy Fritsch, Geraldo José Medeiros Fernandes, Amanda Latercia Tranches Dias
Publikováno v: Arquivos Brasileiros de Oftalmologia v.85 n.3 2022
Arquivos brasileiros de oftalmologia
Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO
Arquivos Brasileiros de Oftalmologia (2021)
Arquivos Brasileiros de Oftalmologia, Volume: 85, Issue: 3, Pages: 235-239, Published: 10 SEP 2021
Arquivos Brasileiros de Oftalmologia, Issue: ahead, Published: 10 SEP 2021
Arquivos Brasileiros de Oftalmologia n.ahead 2021
Arquivos Brasileiros de Oftalmologia
Objective: To evaluate the Candida krusei and Candida albicans biofilm formation abilities on 5 different types of contact lenses and compare their metabolic activities and biomass. Methods: After biofilm formation by both the test species, their met
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c3f854ea5104b170861eb147c962509
https://doi.org/10.5935/0004-2749.20220033
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