Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1: Clinical Letter
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The evidence that stricter control of plasma tyrosine concentrations improves outcome is not conclusive.
“However a stricter diet is not easy and the evidence that stricter control of plasma tyrosine concentrations improves the outcome is not conclusive [36,37].”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [36]
Cites
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
LINDSTEDT, S. (1992) · The Lancet · doi:10.1016/0140-6736(92)92685-9 · Cited by 631 · see citing works
The pathophysiology and treatment of hereditary tyrosinemia type 1
Grompe, M. (2001) · Seminars in Liver Disease · doi:10.1055/s-2001-19035 · Cited by 167 · see citing works
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Chinsky, J. M., Singh, R., Ficicioglu, C., van Karnebeek, C. D. M., Grompe, M., Mitchell, G., Waisbren, S. E., Gucsavas-Calikoglu, M., Wasserstein, M. P., Coakley, K., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.101 · Cited by 247 · see citing works
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
“However a stricter diet is not easy and the evidence that stricter control of plasma tyrosine concentrations improves the outcome is not conclusive [36,37].”
BackgroundSelf-citationMayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de Laet, C., Spiekerkoetter, U., Thimm, E., et al. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-014-0107-7 · Cited by 131 · see citing works
“Only recently, cognitive deficits were described in some Tyr 1-patients treated with NTBC [5-8,11].”
Self-citation
- Authors
- De Laet, C., Terrones Munoz, V., Jaeken, J., François, B., Carton, D., Sokal, E. M., Dan, B., & Goyens, P. J.
- Affiliations
- Universitair Ziekenhuis Leuven (BE)
- Ghent University Hospital (BE)
- Cliniques Universitaires Saint-Luc (BE)
- Université Libre de Bruxelles (BE)
- Venue
- Developmental Medicine & Child Neurology
- Publisher
- Wiley
- Published
- 2011-07-11
- Volume
- 53
- Issue
- 10
- Pages
- 962-964
- ISSN
- 0012-1622 (ISSN-L)
- OpenAlex
- W1807790571
- Cited by
- 49
- References
- 2
- Citations by year
- 2024: 2 · 2023: 1 · 2022: 5 · 2021: 2 · 2020: 3 · 2019: 6 · 2018: 2 · 2017: 13 · 2016: 3 · 2015: 3 · 2014: 3 · 2013: 2 · 2012: 1
- FWCI
- 1.54
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Developmental Medicine & Child Neurology (publishedVersion)
- PubMed (publishedVersion)
- Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion)
- Digital Access to Libraries (Université catholique de Louvain (UCL), l'Université de Namur (UNamur) and the Université Saint-Louis (USL-B)) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Keywords
- NTBC, nitisinone, neuropsychological outcomes, tyrosine metabolism disorders, inborn errors of metabolism
- MeSH terms
- Adolescent, Belgium, Child, Child, Preschool, Cognition Disorders, Cyclohexanones, Enzyme Inhibitors, Female, Follow-Up Studies, Humans, Intelligence, Intelligence Tests, Male, Neuropsychological Tests, Nitrobenzoates, Phenylalanine, Tyrosine, Treatment Outcome, Tyrosinemias
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