Clinical Biochemistry

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339 papersQuestions on this topic

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Correction: Taliaferro, L. et al. Evaluation of the Broad-Range PCR-Electrospray Ionization Mass Spectrometry (PCR/ESI-MS) System and Virus Microarrays for Virus Detection. Viruses 2014, 6, 1876-1896
Lanyn P. Taliaferro, Teresa A. Galvin, Hailun Ma et al. · Viruses · 2014
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Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect
Saadet Mercimek-Mahmutoglu, Dawn Corderio, Laura Nagy et al. · Molecular Genetics and Metabolism Reports · 2014
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Unraveling the PAF-AH/Lp-PLA2 controversy1
Diana M. Stafforini, Guy A. Zimmerman · Journal of Lipid Research · 2014
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SCREENINGUL NEONATAL PENTRU BOLI RARE ÎN REGIUNEA DE NORD-EST A ROMÂNIEI: REZULTATELE PROGRAMULUI PENTRU PERIOADA 2009-2012
Dana-Teodora Anton-Pǎduraru, Maria-Liliana Iliescu · Romanian Journal of Pediatrics · 2013
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Glycation accelerates fibrillization of the amyloidogenic W7FW14F apomyoglobin.
Clara Iannuzzi, Rosa Maritato, Gaetano Irace et al. · PLoS ONE · 2013
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Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant
Yoona Rhee, Todd Heaton, Catherine Keegan et al. · Clinics and Practice · 2013
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Associations of PON1 and genetic ancestry with obesity in early childhood.
Karen Huen, Kim Harley, Kenneth Beckman et al. · PLoS ONE · 2013
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Clinical pathways for inborn errors of metabolism: warranted and feasible
Demirdas Serwet, van Kessel Imke N, Korndewal Marjolein J et al. · Orphanet Journal of Rare Diseases · 2013
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Association of four genetic polymorphisms of AGER and its circulating forms with coronary artery disease: a meta-analysis.
Feng Peng, Dan Hu, Nan Jia et al. · PLoS ONE · 2013
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Inhibitory effect of metformin and pyridoxamine in the formation of early, intermediate and advanced glycation end-products.
Saheem Ahmad, Uzma Shahab, Mohd Hassan Baig et al. · PLoS ONE · 2013
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Diabetes alters activation and repression of pro- and anti- inflammatory signalling pathways in the vasculature
Elyse eDi Marco, Elyse eDi Marco, Stephen P Gray et al. · Frontiers in Endocrinology · 2013
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Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
Zhihong Wang, Aizhen Yan, Yuxiang Lin et al. · PLoS ONE · 2013
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Multiplex PCR System for Rapid Detection of Pathogens in Patients with Presumed Sepsis – A Systemic Review and Meta-Analysis
Shy-Shin Chang, Wen-Han Hsieh, Ting-Shou Liu et al. · PLoS ONE · 2013 · Meta-analysis
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Impact of GLO1 knock down on GLUT4 trafficking and glucose uptake in L6 myoblasts.
Britta Engelbrecht, Bernd Stratmann, Cornelius Hess et al. · PLoS ONE · 2013
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The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases
van Karnebeek Clara D M, Houben Roderick F A, Lafek Mirafe et al. · Orphanet Journal of Rare Diseases · 2012
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Leukoencephalopathy with accumulated succinate is indicative of <it>SDHAF1</it> related complex II deficiency
Ohlenbusch Andreas, Edvardson Simon, Skorpen Johannes et al. · Orphanet Journal of Rare Diseases · 2012
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Cerebrospinal fluid matrix metalloproteinases are elevated in cerebral adrenoleukodystrophy and correlate with MRI severity and neurologic dysfunction.
Kathryn A Thibert, Gerald V Raymond, David R Nascene et al. · PLoS ONE · 2012
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Dopa-Responsive Dystonia in a Ten-Year-Old Girl
Venkatesh Soma, Hussain Sadiq Mohammed, Ebrahim Riyas et al. · Journal of Family Medicine and Primary Care · 2012
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Glyoxalase-I is a novel prognosis factor associated with gastric cancer progression.
Wan-Li Cheng, Ming-Ming Tsai, Chung-Ying Tsai et al. · PLoS ONE · 2012
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Endocrine manifestations related to inherited metabolic diseases in adults
Vantyghem Marie-Christine, Dobbelaere Dries, Mention Karine et al. · Orphanet Journal of Rare Diseases · 2012
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