Results 1 to 10 of about 5,156 (162)
Treatment adherence in tyrosinemia type 1 patients [PDF]
Orphanet Journal of Rare Diseases, 2021 Background While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinical outcome.
Domingo González-Lamuño +4 more
doaj +6 more sources
Case report: ADHD and prognosis in tyrosinemia type 1 [PDF]
Frontiers in Psychiatry, 2023 Neurometabolic disorders such as tyrosinemia type 1 (TYRSN1) may interfere with brain metabolism and show symptoms of attention-deficit hyperactivity disorder (ADHD) in patients treated with the enzyme inhibitor nitisinone [2-(2-nitro-4 ...
Helene Barone +7 more
doaj +6 more sources
Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study [PDF]
International Journal of Pediatrics, 2021 Background. Hereditary tyrosinemia type 1 (HT1) is a recessively inherited inborn error of metabolism affecting the final step of tyrosine catabolism. The accumulation of tyrosine toxic metabolites leads to progressive hepatic, renal, and neurological ...
Noor A. Megdadi +5 more
doaj +5 more sources
Progress in Gene Therapy for Hereditary Tyrosinemia Type 1 [PDF]
PharmaceuticsHereditary Tyrosinemia Type-1 (HT1), an inherited error of metabolism caused by a mutation in the fumarylacetoacetate hydrolase gene, is associated with liver disease, severe morbidity, and early mortality.
Helen Thomas, Robert C. Carlisle
doaj +4 more sources
Severe neurological crisis in adult patients with Tyrosinemia type 1 [PDF]
Annals of Clinical and Translational Neurology, 2020 We report six adult patients with Tyrosinaemia type 1 (HT‐1) who presented with recurrent porphyria‐like neurological crises after discontinuation/interruption of 2‐(2‐nitro‐4‐trifluoro‐methylbenzyol)‐1,3 cyclohexanedione (NTBC) treatment.
Charlotte Dawson +7 more
doaj +5 more sources
Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide [PDF]
International Journal of Neonatal ScreeningIn The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and a false-negative (FN) case show that the Dutch TT1 NBS protocol is ...
Allysa M. Kuypers +9 more
doaj +6 more sources
Type 1 tyrosinemia in Finland: a nationwide study [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure.
Linnea Äärelä +8 more
doaj +6 more sources
Outcome of Tyrosinemia Type 1 in Indian Children. [PDF]
J Clin Exp Hepatol, 2021 The objective of this study was to determine the outcome of children with tyrosinemia type 1 from India.A retrospective observational study was conducted on 11 patients diagnosed with type I tyrosinemia under our care. Age at symptoms, age at diagnosis, age at starting 2-nitro-4-trifluoromethylbenzoyl-1,3-cyclohexanedione (NTBC), duration between ...
Mirani S, Poojari V, Shetty NS, Shah I.
europepmc +4 more sources
Tyrosinemia type 1 and ADHD like symptoms similarity or comorbidity about a case [PDF]
European Psychiatry, 2023 Introduction Many metabolic diseases influence brain function and are associated with psychiatric symptoms and neuropsychiatric disorders (including autism-spectrum disorders, ADHD and psychotic disorders).
H. Belhadga, Z. Elmaataoui, H. Kisra
doaj +2 more sources
Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review [PDF]
Frontiers in Pediatrics, 2021 Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities.
Karim N. Daou +5 more
doaj +2 more sources