ArticleJournal of inherited metabolic disease2012
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Metabolic phenotyping combined with transcriptomics metadata fortifies the diagnosis of early-stage Hepatocellular carcinoma.Journal of advanced research · 2025Pooled it
- In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1.The American journal of case reports · 2025Article
- Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.Journal of inherited metabolic disease · 2025Review
- Progress in Gene Therapy for Hereditary Tyrosinemia Type 1.Pharmaceutics · 2025Review
- Analysis and Validation of Tyrosine Metabolism-related Prognostic Features for Liver Hepatocellular Carcinoma Therapy.Current medicinal chemistry · 2025Article
- Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.Journal of inherited metabolic disease · 2025Review
- Smad2/3/4 complex could undergo liquid liquid phase separation and induce apoptosis through TAT in hepatocellular carcinoma.Cancer cell international · 2024Article
- Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.Molecular genetics and metabolism reports · 2022Article
- Identification and validation of a tyrosine metabolism-related prognostic prediction model and characterization of the tumor microenvironment infiltration in hepatocellular carcinoma.Frontiers in immunology · 2022Article
- Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.Journal of medical genetics · 2021Review
- Treatment adherence in tyrosinemia type 1 patients.Orphanet journal of rare diseases · 2021Observational
- Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.Nutrients · 2020Article
- Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.Paediatric drugs · 2019Review
- Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).The application of clinical genetics · 2017Review
- Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?Genetics in medicine : official journal of the American College of Medical Genetics · 2016Review
- Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya.Iranian journal of pediatrics · 2015Article
- Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.Orphanet journal of rare diseases · 2014Article
- Heat shock response associated with hepatocarcinogenesis in a murine model of hereditary tyrosinemia type I.Cancers · 2014Article
- Recommendations for the management of tyrosinaemia type 1.Orphanet journal of rare diseases · 2013Review
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 1991 introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) as a treatment for hereditary tyrosinemia type 1 (HT-1), a disorder of tyrosine catabolism, has radically modified the natural history of this disorder. Despite the dramatic improvements in survival, outcomes and quality of life seen with NTBC treatment, HT-1 remains a chronic disorder with several long-term complications, including, a persistent (albeit low) risk of hepatocellular carcinoma and suboptimal neuropsychological outcomes. There remain unsolved key-questions concerning the long-term outcomes of patients with HT-1, which closely depend on the quality of follow-up in these patients. In the absence of published guidelines, we investigated the follow-up methods used for French and Belgian patients with HT-1. A simple questionnaire providing a rapid overview of follow-up procedures was sent to the 19 physicians in charge of HT-1 patients treated with NTBC and low-tyrosine diet in France and Belgium. Several areas of heterogeneity (especially liver imaging, slit lamp examination, neuropsychological evaluation and maximal plasma tyrosine level accepted) were observed. In an attempt to improve long-term management and outcome of patients with HT-1, we proposed follow-up recommendations.
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Registered trials
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