A Case Report of Hereditary Tyrosinemia type I
Endocrinology and DisordersSummary of case history: Patient is a 3-year-old female and was first diagnosed on September 1st, 2020 (postnatal day 20) due to lasting high tyrosine level detected for 11 consecutive days. Symptoms and signs: Patient did not exhibit jaundice, hemorrhage, or ascites. Physical examinations did not show any obvious abnormality.
Xiaohong Shang
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Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82 [PDF]
International Journal of Neonatal ScreeningThe authors wish to make the following correction to their paper published in the International Journal of Neonatal Screening [...]
Allysa M. Kuypers +9 more
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Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients
Advances in Experimental Medicine and Biology, 2017 Clinically, Hereditary Tyrosinemia type I (HTI) is especially characterized by severe liver dysfunction in early life. However, recurrent neurological crises are another main finding in these patients when they are treated with a tyrosine and phenylalanine restricted diet only.
van Ginkel, Willem G. +3 more
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Neurological crisis mimicking acute pancreatitis in tyrosinemia type I
The Turkish Journal of Pediatrics, 1999 Hereditary tyrosinemia results from an inborn error in the final step of tyrosine metabolism. Neurological manifestations have been reported in nearly half of patients during illness to have characteristics of altered consciousness, weakness ...
H S Kalkanoğlu, T Coşkun
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Cost-Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I. [PDF]
Can J Hosp Pharm, 2015 Simoncelli M +6 more
europepmc +2 more sources
Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66 [PDF]
International Journal of Neonatal ScreeningThe assessment of newborn screening (NBS) algorithms’ performance to ensure quality improvements is a continuous process: false-positive referrals can enable optimisations in the shorter term, but false-negative referrals are often only discovered many ...
Marelle J. Bouva +2 more
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Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66” [PDF]
International Journal of Neonatal ScreeningWe thank the authors for their comments [...]
Allysa M. Dijkstra +9 more
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The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives. [PDF]
J Inherit Metab DisABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Pietrobattista A +3 more
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Tyrosinemia in a toddler, a case report
Annals of Hepatology, 2022 Introduction and Objectives: This study aimed to present the case of a toddler with acute-on chronic liver failure probably related to tyrosinemia. Case Summary: a two-year four-month-old male infant presented with gastroenteritis, which three days later
GA Gómez Vidrio +4 more
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