Published in Am J Med Genet C Semin Med Genet on May 15, 2006
Harnessing a high cargo-capacity transposon for genetic applications in vertebrates. PLoS Genet (2006) 2.99
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab (2011) 1.98
Serum proteomic profiling in patients with drug-induced liver injury. Aliment Pharmacol Ther (2012) 1.55
Proteomic analysis of rat brain mitochondria following exposure to dopamine quinone: implications for Parkinson disease. Neurobiol Dis (2007) 0.95
NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates. JIMD Rep (2014) 0.86
Serum tumor markers in the evaluation of male germ cell tumors. Nat Rev Urol (2010) 0.83
Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1. Eur J Pediatr (2009) 0.82
Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experience. JIMD Rep (2011) 0.81
Hereditary pancreatic and hepatobiliary cancers. Int J Surg Oncol (2011) 0.81
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. Orphanet J Rare Dis (2016) 0.79
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. Orphanet J Rare Dis (2009) 0.79
Metabolic products in urine of preterm infants characterized via gas chromatography-mass spectrometry. Int J Clin Exp Med (2015) 0.79
A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain. Front Aging Neurosci (2017) 0.77
Hepatic SRC-1 activity orchestrates transcriptional circuitries of amino acid pathways with potential relevance for human metabolic pathogenesis. Mol Endocrinol (2014) 0.77
Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. Sci Rep (2016) 0.76
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism. J Clin Invest (2011) 0.75
Cloudy corneas as an initial presentation of multiple myeloma. Clin Ophthalmol (2014) 0.75
Orphan diseases: state of the drug discovery art. Wien Med Wochenschr (2016) 0.75
Omega-3 fatty acid supplementation decreases DNA damage in brain of rats subjected to a chemically induced chronic model of Tyrosinemia type II. Metab Brain Dis (2017) 0.75