Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I
Peng Gu, Qin Yang, Bangzhu Chen et al. · Molecular Therapy: Methods & Clinical Development · 2021
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Clinical Biochemistry
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Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later
Timothy F. Tramontana, Theodore E. Wilson, Bryan E. Hainline · JIMD Reports · 2021
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Bacterial profile, antimicrobial susceptibility patterns, and associated factors among bloodstream infection suspected patients attending Arba Minch General Hospital, Ethiopia
Melkam Birru, Melat Woldemariam, Aseer Manilal et al. · Scientific Reports · 2021
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Berberine suppresses advanced glycation end products‐associated diabetic retinopathy in hyperglycemic mice
Ning Wang, Leilei Wang, Cheng Zhang et al. · Clinical and Translational Medicine · 2021
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Qualitative and quantitative detection of surgical pathogenic microorganisms Escherichia coli and Staphylococcus aureus based on ddPCR system
Tiantian Zhang, Zhiqiang Niu, Feng Wu et al. · Scientific Reports · 2021
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Ectasia piélica antenatal: signo guía para el diagnóstico familiar de una enfermedad genética
María Teresa Alarcón-Alacio, María Teresa Penela-Vélez de Guevara, María del Mar Ballesteros-García et al. · Anales de Pediatría · 2021
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The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
Majid Alfadhel, Majid Alfadhel, Majid Alfadhel et al. · Frontiers in Pediatrics · 2021
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Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders
Yoko Nakajima, Shuhei Osaka, Tadahaya Mizuno et al. · Molecular Genetics and Metabolism Reports · 2021
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Severe pneumonia caused by Parvimonas micra: a case report
Qing Yu, Lingling Sun, Zuqing Xu et al. · BMC Infectious Diseases · 2021
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Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment
Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens et al. · Molecular Genetics and Metabolism Reports · 2021
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AGEs-Induced Calcification and Apoptosis in Human Vascular Smooth Muscle Cells Is Reversed by Inhibition of Autophagy
Hu-Qiang He, Hu-Qiang He, Yuan-Qing Qu et al. · Frontiers in Pharmacology · 2021
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Centralised or Localised Pathogen Whole Genome Sequencing: Lessons Learnt From Implementation in a Clinical Diagnostic Laboratory
Alicia G. Beukers, Frances Jenkins, Sebastiaan J. van Hal et al. · Frontiers in Cellular and Infection Microbiology · 2021
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Design and Feasibility of a Randomized Controlled Pilot Trial to Reduce Exposure and Cognitive Risk Associated With Advanced Glycation End Products in Older Adults With Type 2 Diabetes
Roni Lotan, Roni Lotan, Ithamar Ganmore et al. · Frontiers in Nutrition · 2021
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Bloodstream infection caused by in a patient with renal hypertension: a case report
Yang Yang, Qingfang Zhang, Haitao Hu et al. · Journal of International Medical Research · 2021
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Genotype-phenotype correlation in phenylketonuria
Alin Remus Iuhas, Claudia Jurca, Marius Bembea · Romanian Journal of Pediatrics · 2021
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Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots—A Systematic Review of Test Accuracy
Chris Stinton, Hannah Fraser, Julia Geppert et al. · Frontiers in Pediatrics · 2021
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Detection of infectious pathogens located in the peripheral lung field by metagenomic next-generation sequencing combined with virtual bronchoscopic navigation
Shu-Feng Xu, Qi Tian, Ya-Ling Tian et al. · Chinese Medical Journal · 2021
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Recurrent noncirrhotic hyperammonemia causing acute metabolic encephalopathy in a patient with a continent ileocecal pouch: a case report
T. M. Skipina, S. Macbeth, E. L. Cummer et al. · Journal of Medical Case Reports · 2021
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The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses
Adam J. Guenzel, Patricia L. Hall, Anna I. Scott et al. · JIMD Reports · 2021
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Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke
José A. Paz, Emilia K. Embiruçu, Clarissa Bueno et al. · JIMD Reports · 2021
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