Cardiac ochronosis with severe aortic and mitral valve stenosis: a challenge case. [PDF]
J Cardiothorac SurgKuş MK +4 more
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CRISPR/Cas9 gene therapy increases the risk of tumorigenesis in the mouse model of hereditary tyrosinemia type I. [PDF]
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Evaluation of serum NEAT1 and MALAT1 expression as diagnostic biomarkers in tyrosinemia, a rare metabolic disorder. [PDF]
Orphanet J Rare DisMotazedian N +8 more
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A Rare Diagnosis in a Resource-Limited Setting: Alkaptonuria in a Young Dominican Child. [PDF]
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Diagnosing alkaptonuria-related nephropathy with urine albumin analysis. [PDF]
Pediatr NephrolGülbahçe A, Muderrisoglu A.
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Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1. [PDF]
MetabolitesSidorina A +10 more
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Hepatocellular carcinoma in a child with hereditary tyrosinemia type I despite early NTBC therapy: When should we suspect it? [PDF]
Radiol Case RepOuassou KL, Abilkassem R.
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Ochronotic Deposition in Alkaptonuria: Semiquinone-Mediated Oxidative Coupling and Metabolic Drivers of Homogentisic Acid Accumulation. [PDF]
Int J Mol SciGrasso D +5 more
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The beta-triketone, nitisinone, kills insecticide-resistant mosquitoes through cuticular uptake
Stavrou-Dowd ZT +6 more
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