From Clinical Presentation to Genetic Confirmation: A Case of L2HGDH-Related Leukodystrophy in an 11-Year-Old
Negareh Poursalehi, Mojtaba Movahedinia, Mohammad Hossein Mohammadi et al. · Neurology Letters · 2025
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Clinical Biochemistry
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Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center
Yi-Ning Luan, Guan-Zhong Shi, Qiu-Xiang Li et al. · Orphanet Journal of Rare Diseases · 2025
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A proposed model using glycation metrics and circulating biomarkers for the prevention of cardiovascular disease
Timothy Valk, Carol McMorrow · Frontiers in Medicine · 2025
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A simple, low-cost, and highly efficient protocol for rapid isolation of pathogenic bacteria from human blood
Fatma S. Coskun, Joshua Quick, Erdal Toprak et al. · Frontiers in Microbiology · 2025
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A Case of Cerebrotendinous Xanthomatosis - Clinical Implications of Delayed Diagnosis
Mansoor C. Abdullah · Journal of Nature and Science of Medicine · 2025
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A Pilot Study of Bone Marrow Transplantation in a GALT‐Null Rat Model of Classic Galactosemia
Shauna A. Rasmussen, Madelyn M. Seemiller, Ingrid Smith et al. · JIMD Reports · 2025
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Meloxicam mitigated methylglyoxal-induced glycative stress in rats
Talha Fayyaz, Ghulam Abbas, Hammad Ahmed et al. · Iranian Journal of Basic Medical Sciences · 2025
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Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy
Usua Oyarbide, Rebecca A. Anderson, Igor Radzikh et al. · Scientific Reports · 2025
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Application of targeted metagenomic next-generation sequencing in pneumonia patients
Guanjun Ren, Liyun Ma, Chunliang Yan et al. · Microbiology Spectrum · 2025
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Paraoxonase 1 and atherosclerosis
Paul N. Durrington, Bilal Bashir, Bilal Bashir et al. · Frontiers in Cardiovascular Medicine · 2023
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Hereditary folate malabsorption: A rare treatable disorder with hematological and neurological manifestations
Madhan Kumar, Sangeetha Yoganathan, Siddarth Todari et al. · Annals of Indian Academy of Neurology · 2022
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Muscle MRI-Based atrophy pattern recognition: Notable findings in a case of pathologically proven lipid storage myopathy
Ameya Patwardhan, Joydeep Mukherjee, Radhika Mhatre et al. · Annals of Indian Academy of Neurology · 2022
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NGS in the clinical microbiology settings
Milena Pitashny, Milena Pitashny, Balqees Kadry et al. · Frontiers in Cellular and Infection Microbiology · 2022
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The impact of GenMark Dx ePlex blood-culture identification on the treatment and outcomes of gram-positive bacteremia
B. Matthew Kiszla, Todd McCarty, Cameron White et al. · Antimicrobial Stewardship & Healthcare Epidemiology · 2022
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Advanced glycation end-products are associated with diabetic neuropathy in young adults with type 1 diabetes
Elaf Al-Saoudi, Marie M. B. Christensen, Peter Nawroth et al. · Frontiers in Endocrinology · 2022
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Negative results of bronchoalveolar lavage fluid metagenomic next-generation sequencing in critically ill patients
Wentao Ma, Yangchao Zhao, Xiaoxiao Lu et al. · Frontiers in Cellular and Infection Microbiology · 2022
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The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia
Bing-bo Zhou, Ling Hui, Qing-hua Zhang et al. · Frontiers in Genetics · 2022
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Non-enzymatic glycoxidation linked with nutrition enhances the tumorigenic capacity of prostate cancer epithelia through AGE mediated activation of RAGE in cancer associated fibroblasts
Bradley A. Krisanits, Pamela Woods, Lourdes M. Nogueira et al. · Translational Oncology · 2022
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Immunohistochemical diagnosis of human infectious diseases: a review
Hamadou Oumarou Hama, Gérard Aboudharam, Rémi Barbieri et al. · Diagnostic Pathology · 2022
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A rapid MALDI‐TOF mass spectrometry‐based method for colistin susceptibility testing in Escherichia coli
Jiaping Li, Yonglu Huang, Yanyan Hu et al. · Microbial Biotechnology · 2022
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