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Title
Recommendations for the management of tyrosinaemia type 1
Authors
Keywords
Hepatorenal tyrosinaemia, Fumarylacetoacetase, Succinylacetone, Nitisinone, Cirrhosis, Acute live failure, Hepatocellular carcinoma, Low tyrosine diet
Journal
Orphanet Journal of Rare Diseases
Volume 8, Issue 1, Pages 8
Publisher
Springer Nature
Online
2013-01-12
DOI
10.1186/1750-1172-8-8
References
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Related references
Note: Only part of the references are listed.- Single dose NTBC-treatment of hereditary tyrosinemia type I
- (2012) A. Schlune et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec
- (2012) Jean Larochelle et al. MOLECULAR GENETICS AND METABOLISM
- LC-MS/MS Method for Simultaneous Determination on a Dried Blood Spot of Multiple Analytes Relevant for Treatment Monitoring in Patients with Tyrosinemia Type I
- (2011) Giancarlo la Marca et al. ANALYTICAL CHEMISTRY
- Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1
- (2011) Corinne De Laet et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Tyrosinemia type I: long-term outcome in a patient treated with doses of NTBC lower than recommended
- (2011) Patrizia D’Eufemia et al. EUROPEAN JOURNAL OF PEDIATRICS
- Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?
- (2011) A. Daly et al. JOURNAL OF HUMAN NUTRITION AND DIETETICS
- Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC
- (2011) Eva Thimm et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines
- (2011) Manuel Schiff et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Newborn screening for Tyr-I: Two years' experience of the New York State program
- (2011) M.A. Morrissey et al. MOLECULAR GENETICS AND METABOLISM
- Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome
- (2011) Maria Luz Couce et al. PEDIATRICS INTERNATIONAL
- Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I
- (2010) Eva Thimm et al. MOLECULAR GENETICS AND METABOLISM
- Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1
- (2009) Jan-Ulrich Schlump et al. EUROPEAN JOURNAL OF PEDIATRICS
- Clinical practice
- (2009) Hanaa El-Karaksy et al. EUROPEAN JOURNAL OF PEDIATRICS
- Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients
- (2009) Diran Herebian et al. JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES
- Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1
- (2008) Saikat Santra et al. EXPERT OPINION ON PHARMACOTHERAPY
- NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients
- (2008) A. Masurel-Paulet et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Focal Liver Lesion Detection and Characterization with Diffusion-weighted MR Imaging: Comparison with Standard Breath-hold T2-weighted Imaging
- (2008) Tejas Parikh et al. RADIOLOGY
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