Tyrosinemia type I: long-term outcome in a patient treated with doses of NTBC lower than recommended
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Lower doses of nitisinone have been found to be effective.
“However lower doses of nitisinone have been found to be effective [24,25].”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [25]
Cites
Tyrosinaemia type I and NTBC (2‐(2‐nitro‐4‐trifluoromethylbenzoyl)‐1,3‐cyclohexanedione)
Holme, E., & Lindstedt, S. (1998) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005410820201 · Cited by 264 · see citing works
Clinical practice: NTBC therapy for tyrosinemia type 1: how much is enough?
El-Karaksy, H., Rashed, M., El-Sayed, R., El-Raziky, M., El-Koofy, N., El-Hawary, M., & Al-Dirbashi, O. (2010) · European Journal of Pediatrics · doi:10.1007/s00431-009-1090-1 · Cited by 45 · see citing works
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Recommendations for the management of tyrosinaemia type 1
de Laet, C., Dionisi-Vici, C., Leonard, J. V., McKiernan, P., Mitchell, G., Monti, L., de Baulny, H. O., Pintos-Morell, G., & Spiekerkötter, U. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-8 · Cited by 227 · see citing works
van Ginkel, W. G., Rodenburg, I. L., Harding, C. O., Hollak, C. E. M., Heiner-Fokkema, M. R., & van Spronsen, F. J. (2019) · Pediatric Drugs · doi:10.1007/s40272-019-00364-4 · Cited by 58 · see citing works
Single dose NTBC‐treatment of hereditary tyrosinemia type I
Schlune, A., Thimm, E., Herebian, D., & Spiekerkoetter, U. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9450-9 · Cited by 33 · see citing works
Zeybek, A. Ç. A., & Zübarioğlu, T. (2017) · Orphan Drugs Research and Reviews · doi:10.2147/odrr.s92995 · Cited by 28 · see citing works
Tyrosinemia type 1: an overview of nursing care.
Barnby, E. (2014) · PubMed · Cited by 8 · see citing works
Current management options for tyrosinemia
El-Shabrawi, M. H. F., & Kamal (2013) · Orphan Drugs Research and Reviews · doi:10.2147/odrr.s31501 · Cited by 5 · see citing works
Dose‐Finding Studies Among Orphan Drugs Approved in the EU: A Retrospective Analysis
Schuller, Y., Wied, C. C. G., Hollak, C. E. M., Leufkens, H. G. M., & Stoyanova-Beninska, V. V. (2018) · The Journal of Clinical Pharmacology · doi:10.1002/jcph.1304 · Cited by 4 · see citing works
Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines
Dijkstra, A. M., Das, A. M., Maiorana, A., Heiner-Fokkema, M. R., & van Spronsen, F. J. (2025) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.70089 · Cited by 3 · see citing works
Tyrosinemia type 1: Remaining challenges after introduction of NTBC
van Ginkel, W. G. (2020) · doi:10.33612/diss.137426908
- Authors
- D’Eufemia, P., Celli, M., Tetti, M., & Finocchiaro, R.
- Affiliations
- Sapienza University of Rome (IT)
- Corresponding author
- D’Eufemia, Patrizia
- ORCID
- Celli, Mauro
- Venue
- European Journal of Pediatrics
- Published
- 2011-02-22
- Volume
- 170
- Issue
- 6
- Pages
- 819-819
- ISSN
- 0340-6199 (ISSN-L)
- 1432-1076
- OpenAlex
- W2010382041
- Cited by
- 9
- References
- 2
- Citations by year
- 2025: 1 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 1 · 2014: 1 · 2013: 2 · 2012: 1
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- tyrosinemia type I, NTBC, nitisinone, long-term outcomes, subtherapeutic dosing, phenylketonuria, tyrosine metabolism disorders
- MeSH terms
- Cyclohexanones, Enzyme Inhibitors, Female, Humans, Nitrobenzoates, Tyrosinemias
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