Dynamics of endogenous intoxication in experimental diabetes mellitus
Liubomyr Zaiats, Yuliya Fedorchenko, Walery Zukow · Journal of Education, Health and Sport · 2022
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Clinical Biochemistry
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A comparison of active versus passive methods of responding to rapid diagnostic blood culture results
Elisabeth L. Chandler, Katie L. Wallace, Elizabeth Palavecino et al. · Antimicrobial Stewardship & Healthcare Epidemiology · 2022
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A retrospective analysis of metabolic control in children with PKU in the COVID-19 era
Dóra Becsei, Erika Kiss, Ildikó Szatmári et al. · Molecular Genetics and Metabolism Reports · 2022
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Spectral imaging and nucleic acid mimics fluorescence in situ hybridization (SI-NAM-FISH) for multiplex detection of clinical pathogens
Andreia S. Azevedo, Andreia S. Azevedo, Andreia S. Azevedo et al. · Frontiers in Microbiology · 2022
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Dysfunctional peroxisomal lipid metabolisms and their ocular manifestations
Chuck T. Chen, Zhuo Shao, Zhuo Shao et al. · Frontiers in Cell and Developmental Biology · 2022
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Hypervariable-Locus Melting Typing: a Novel Approach for More Effective High-Resolution Melting-Based Typing, Suitable for Large Microbiological Surveillance Programs
Matteo Perini, Aurora Piazza, Simona Panelli et al. · Microbiology Spectrum · 2022
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Inherited metabolic disorders in a cohort of Egyptian children
Shimaa Abdelsattar, Manar Obada, Mahmoud A. El-Hawy et al. · Egyptian Liver Journal · 2022
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Role and Clinical Application of Metagenomic Next-Generation Sequencing in Immunocompromised Patients With Acute Respiratory Failure During Veno-Venous Extracorporeal Membrane Oxygenation
Yang-Chao Zhao, Yan-Zhong Ding, Xi Zhao et al. · Frontiers in Cellular and Infection Microbiology · 2022
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Diagnostic performance of metagenomic next-generation sequencing for the detection of pathogens in bronchoalveolar lavage fluid in patients with pulmonary infections: Systematic review and meta-analysis
Shenglin Chen, Yutong Kang, Dan Li et al. · International Journal of Infectious Diseases · 2022
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Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases
Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian et al. · Frontiers in Neurology · 2022
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Evaluation of MALDI-TOF MS System for the Identification and Differentiation of Burkholderia cepacia Complex Species
Fabiana Caroline Zempulski Volpato, Mayana Kieling Hernandez, Daiana de Lima-Morales et al. · Brazilian Archives of Biology and Technology · 2022
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A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency
Xianru Jiao, Pan Gong, Yue Niu et al. · Frontiers in Genetics · 2022
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Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria
L. R. Ranganath, A. M. Milan, A. T. Hughes et al. · Scientific Reports · 2022
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Fructose and methylglyoxal-induced glycation alters structural and functional properties of salivary proteins, albumin and lysozyme.
Mariane Yumiko Muraoka, Allisson Benatti Justino, Douglas Carvalho Caixeta et al. · PLoS ONE · 2022
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Carbapenemase gene detection using Xpert Carba-R in a tertiary care hospital among extremely drug resistant gram-negative bacilli
D. Sheth, S. Kothavale, V. Gaikwad et al. · International Journal of Infectious Diseases · 2022
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Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil
Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes et al. · JIMD Reports · 2021
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Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency
Alexander Laemmle, Andrea Lisa Steck, André Schaller et al. · Molecular Genetics and Metabolism Reports · 2021
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Pediatric glutaric aciduria type 1: 14 cases, diagnosis and management
Leema P Cornelius, Vivekasaravanan Raju, Asir Julin · Annals of Indian Academy of Neurology · 2021
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Valine metabolites analysis in ECHS1 deficiency
Mari Kuwajima, Karin Kojima, Hitoshi Osaka et al. · Molecular Genetics and Metabolism Reports · 2021
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Isomerization of trans‐3‐methylglutaconic acid
Dylan E. Jones, J. David Ricker, Laina M. Geary et al. · JIMD Reports · 2021
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