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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Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry
Gabriel Civallero, Francyne Kubaski, Danilo Pereira et al. · Molecular Genetics and Metabolism Reports · 2022
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Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
Yiming Lin, Bangbang Lin, Yanru Chen et al. · Orphanet Journal of Rare Diseases · 2022
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Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder
Yu Shen, Yun Peng, Yun Peng et al. · Frontiers in Genetics · 2022
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Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review
Yun Chen, Kaiyu Liu, Zailan Yang et al. · Frontiers in Genetics · 2022
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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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A Treatable Genetic Disease Caused by CAD Mutation
Xia Peng, Li-ping Xia, Hai-ju Zhang et al. · Frontiers in Pediatrics · 2022
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Accurate Identification of Klebsiella variicola by MALDI-TOF Mass Spectrometry in Clinical Microbiology Laboratories
Yuki Ohama, Yusuke Nomura, Miyuki Mizoguchi et al. · Microbiology Spectrum · 2022
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Nonhepatic Hyperammonemia With Septic Shock: Case and Review of Literature
Nishil Dalsania MD, Suhali Kundu MD, Ravi Karan Patti MBBS et al. · Journal of Investigative Medicine High Impact Case Reports · 2022
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Development and evaluation of a multiplex quantitative polymerase chain reaction assay for detecting bacteria associated with lower respiratory tract infection
Xianxia Zhuo, Jiankang Zhao, Lei Wang et al. · International Journal of Infectious Diseases · 2022
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