Recomendaciones y manejo de la tirosinemia hereditaria Tipo I o Tirosinemia hepatorrenal
Abstract
Tyrosinemia type I is a potentially lethal disease if not diagnosed and treated properly. Diagnostic and therapeutic advances in recent years have significantly improved the prognosis for these patients. It is therefore important that the pediatrician has a clinical practice guideline with recommendations for diagnosis and treatment of this disease that leads to the appropriate intervention.
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There is little evidence base for the management of HT1.
“However there is little evidence base for the management of HT1 so these recommendations are largely based on studies already published [5,6], on expert opinion and unpublished data.”
From Recommendations for the management of tyrosinaemia type 1 (2013) · cites this paper as [5]
Cites
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1 of the 14 references couldn’t be matched to a known paper.
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Recommendations for the management of tyrosinaemia type 1
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- Authors
- Couce, M. L., Aldámiz-Echevarría, L., Baldellou, A., Blasco, J., Bueno, M. A., Dalmau, J., De La Vega, A., Del Toro, M., Díaz, C., Lama, R., Leao, E., Marrero, M., Navas, V. M., & Pintos, G.
- Affiliations
- Complejo Hospitalario Universitario de Santiago (ES)
- Universidad de Zaragoza (ES)
- Hospital Universitario Virgen del Rocío (ES)
- Hospital Universitario La Paz (ES)
- Hospital de São João (PT)
- Hospital Materno-Infantil (ES)
- Corresponding author
- Couce, M.L.
- ORCID
- Couce, M.L.
- Venue
- Anales de Pediatría
- Publisher
- Elsevier BV
- Published
- 2010-11
- Volume
- 73
- Issue
- 5
- Pages
- 279.e1-279.e4
- ISSN
- 1695-4033 (ISSN-L)
- OpenAlex
- W2033459188
- Cited by
- 15
- References
- 14
- Citations by year
- 2024: 2 · 2022: 2 · 2021: 1 · 2020: 1 · 2019: 1 · 2017: 2 · 2014: 3 · 2013: 1
- FWCI
- 0.60
- Type
- journal article
- Language
- es
- Open access
- closed
- Locations
- Anales de Pediatría (publishedVersion)
- PubMed (publishedVersion)
- 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 › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
- Keywords
- tyrosinemia type I, diagnosis, treatment management, pediatric patients
- MeSH terms
- Child, Humans, Practice Guidelines as Topic, Tyrosinemias
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