NTBC treatment in tyrosinaemia type I: long-term outcome in French patients.

PubWeight™: 1.48‹?› | Rank: Top 4%

🔗 View Article (PMID 18214711)

Published in J Inherit Metab Dis on January 25, 2008

Authors

A Masurel-Paulet1, J Poggi-Bach, M-O Rolland, O Bernard, N Guffon, D Dobbelaere, J Sarles, H Ogier de Baulny, G Touati

Author Affiliations

1: Pediatric Department, Hôpital d'Enfants, Dijon, France.

Articles citing this

Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis (2013) 1.40

Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis (2011) 1.06

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis (2014) 0.94

Single dose NTBC-treatment of hereditary tyrosinemia type I. J Inherit Metab Dis (2012) 0.90

Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines. J Inherit Metab Dis (2011) 0.86

Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research? Genet Med (2015) 0.86

Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. Health Qual Life Outcomes (2013) 0.85

Neonatal liver failure: aetiologies and management--state of the art. Eur J Pediatr (2010) 0.85

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? JIMD Rep (2014) 0.83

Corneal depositions in tyrosinaemia type I during treatment with Nitisinone. BMJ Case Rep (2012) 0.80

Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report. JIMD Rep (2014) 0.79

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. Orphanet J Rare Dis (2016) 0.79

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet. Mol Genet Metab Rep (2017) 0.78

A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain. Front Aging Neurosci (2017) 0.77

Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice. J Inherit Metab Dis (2016) 0.77

Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. Sci Rep (2016) 0.76

Alkaptonuria: leading to the treasure in exceptions. JIMD Rep (2011) 0.76

Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya. Iran J Pediatr (2015) 0.75

Cost-Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I. Can J Hosp Pharm (2015) 0.75

Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team. JIMD Rep (2014) 0.75

Treatment strategies for acute metabolic disorders in neonates. Sudan J Paediatr (2011) 0.75

Liver tumors in children with metabolic disorders. Transl Pediatr (2015) 0.75

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1). Appl Clin Genet (2017) 0.75

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1. PLoS One (2017) 0.75

[Severe osteoarthritic manifestations of ochronosis]. Z Rheumatol (2014) 0.75

Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex. Metab Brain Dis (2017) 0.75

Articles cited by this

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet (1992) 4.23

Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). J Inherit Metab Dis (1998) 1.97

Neurologic crises in hereditary tyrosinemia. N Engl J Med (1990) 1.48

Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology (1994) 1.28

Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability. Hum Mol Genet (2001) 1.03

Visceral pathology of hereditary tyrosinemia type I. Am J Hum Genet (1990) 1.03

From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug. J Inherit Metab Dis (1998) 1.00

Long-term therapy with NTBC and tyrosine-restricted diet in a murine model of hereditary tyrosinemia type I. Mol Genet Metab (2002) 0.99

Nontransplant treatment of tyrosinemia. Clin Liver Dis (2000) 0.95

Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr (1995) 0.93

Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment. J Pediatr Gastroenterol Nutr (2005) 0.90

Tyrosinaemia type I: considerations of treatment strategy and experiences with risk assessment, diet and transplantation. J Inherit Metab Dis (1995) 0.90

The kidney in children with tyrosinemia: sonographic, CT and biochemical findings. Pediatr Radiol (1999) 0.89

Outcome of tyrosinaemia type III. J Inherit Metab Dis (2001) 0.83

Indications and outcome of liver transplantation in tyrosinaemia type 1. Eur J Pediatr (1999) 0.82

Experience with NTBC therapy in hereditary tyrosinaemia type I: an alternative to liver transplantation. Ann Trop Paediatr (2004) 0.80

Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr (2003) 0.78

Lectin-reactive alpha-fetoprotein in patients with tyrosinemia type I and hepatocellular carcinoma. J Pediatr Gastroenterol Nutr (2006) 0.77

Tyrosinemia type III: diagnosis and ten-year follow-up. Acta Paediatr (1997) 0.77

Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity. Pediatr Res (2006) 0.76

Articles by these authors

Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase. Nature (1998) 7.76

Sequences of mouse immunoglobulin light chain genes before and after somatic changes. Cell (1978) 7.53

Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med (2001) 6.94

Sequence of a mouse germ-line gene for a variable region of an immunoglobulin light chain. Proc Natl Acad Sci U S A (1978) 6.80

Sequence of the murine and human cellular myc oncogenes and two modes of myc transcription resulting from chromosome translocation in B lymphoid tumours. EMBO J (1983) 5.93

TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia (2009) 4.53

Dominant-negative c-Jun promotes neuronal survival by reducing BIM expression and inhibiting mitochondrial cytochrome c release. Neuron (2001) 3.47

Clinical features of 52 neonates with hyperinsulinism. N Engl J Med (1999) 3.35

Dysmyelination in transgenic mice resulting from expression of class I histocompatibility molecules in oligodendrocytes. Nature (1991) 2.67

Sequences of the joining region genes for immunoglobulin heavy chains and their role in generation of antibody diversity. Proc Natl Acad Sci U S A (1981) 2.38

Intrapericardial fibrinolysis: a useful treatment in the management of purulent pericarditis. Intensive Care Med (1997) 2.30

Two forms of the basic fibroblast growth factor receptor-like mRNA are expressed in the developing mouse brain. Proc Natl Acad Sci U S A (1990) 2.17

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A (1998) 2.17

Transcriptionally active DNA region that rearranges frequently in murine lymphoid tumors. Proc Natl Acad Sci U S A (1982) 2.16

Phosphorylation of ADF/cofilin abolishes EGF-induced actin nucleation at the leading edge and subsequent lamellipod extension. J Cell Biol (2000) 2.10

Nucleotide sequence of immunoglobulin heavy chain joining segments between translocated VH and mu constant regions genes. Proc Natl Acad Sci U S A (1980) 2.06

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology (1999) 2.06

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology (2001) 1.99

Cytoskeletal changes regulated by the PAK4 serine/threonine kinase are mediated by LIM kinase 1 and cofilin. J Biol Chem (2001) 1.93

bcl-w, a novel member of the bcl-2 family, promotes cell survival. Oncogene (1996) 1.87

Chronic active hepatitis associated with antiliver/kidney microsome antibody type 1: a second type of "autoimmune" hepatitis. Hepatology (1988) 1.79

Expression of tal-1 and GATA-binding proteins during human hematopoiesis. Blood (1993) 1.74

Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis (1999) 1.63

Autoimmune hepatitis with initial presentation as acute hepatic failure in young children. J Pediatr (1990) 1.61

A domain of TEL conserved in a subset of ETS proteins defines a specific oligomerization interface essential to the mitogenic properties of the TEL-PDGFR beta oncoprotein. EMBO J (1997) 1.60

Orthotopic liver transplantation for mitochondrial respiratory chain disorders: a study of 5 children. Transplantation (2001) 1.59

Spontaneous perforation of the biliary tract in infancy: a series of 11 cases. Eur J Pediatr Surg (1996) 1.58

Microbial diversity in the sputum of a cystic fibrosis patient studied with 16S rDNA pyrosequencing. Eur J Clin Microbiol Infect Dis (2009) 1.55

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics (2001) 1.53

Transient neonatal cholestasis: origin and outcome. J Pediatr (1998) 1.53

Anti-liver-kidney microsome antibody recognizes a 50,000 molecular weight protein of the endoplasmic reticulum. J Exp Med (1985) 1.52

Current lifestyle of young adults after liver transplantation during childhood. Am J Transplant (2010) 1.51

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant (2003) 1.50

Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis (2013) 1.47

Estrogen and Bcl-2: gene induction and effect of transgene in experimental stroke. J Neurosci (2001) 1.46

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest (1994) 1.45

Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology (1996) 1.41

Organization of genes and spacers within the mouse immunoglobulin VH locus. J Mol Appl Genet (1981) 1.41

Incidence of cirrhosis in children with chronic hepatitis. J Pediatr (1990) 1.41

False-positive result of hepatitis C enzyme-linked immunosorbent assay in children with autoimmune hepatitis. J Pediatr (1991) 1.40

Portal obstruction in children. I. Clinical investigation and hemorrhage risk. J Pediatr (1983) 1.40

TEL is a sequence-specific transcriptional repressor. J Biol Chem (1999) 1.39

Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study. J Pediatr Gastroenterol Nutr (2001) 1.39

[Intolerance of protein hydrolysates]. Pediatrie (1992) 1.39

Unusual early presentation of Gilbert syndrome in pediatric recipients of liver transplantation. J Pediatr Gastroenterol Nutr (2000) 1.37

Liver transplantation in urea cycle disorders. Eur J Pediatr (1999) 1.35

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab (2009) 1.34

Cholelithiasis in infancy: a study of 40 cases. J Pediatr (1993) 1.31

Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. Gut (2001) 1.29

Social stress exacerbates stroke outcome by suppressing Bcl-2 expression. Proc Natl Acad Sci U S A (2001) 1.29

The impact of UGT1A8, UGT1A9, and UGT2B7 genetic polymorphisms on the pharmacokinetic profile of mycophenolic acid after a single oral dose in healthy volunteers. Clin Pharmacol Ther (2007) 1.28

mRNA for surface immunoglobulin gamma chains encodes a highly conserved transmembrane sequence and a 28-residue intracellular domain. Proc Natl Acad Sci U S A (1982) 1.28

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk. Mol Genet Metab (2003) 1.28

Long-term follow-up of growth in height after successful liver transplantation. J Pediatr (1994) 1.28

The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis (2007) 1.27

Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis (2005) 1.27

Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure. Pediatr Transplant (2000) 1.27

TEL-JAK2 transgenic mice develop T-cell leukemia. Blood (2000) 1.26

Portal obstruction in children. II. Results of surgical portosystemic shunts. J Pediatr (1983) 1.26

Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis. J Inherit Metab Dis (2006) 1.26

Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology (1997) 1.25

Congenital hepatic fibrosis in children. J Pediatr (1981) 1.24

Plasmacytomas with more than one immunoglobulin kappa mRNA: implications for allelic exclusion. Proc Natl Acad Sci U S A (1981) 1.24

A new type of p16INK4/MTS1 gene transcript expressed in B-cell malignancies. Oncogene (1995) 1.23

Interferon alfa therapy for chronic hepatitis B in children: a multinational randomized controlled trial. Gastroenterology (1998) 1.22

The t(10;11) translocation in acute myeloid leukemia (M5) consistently fuses the leucine zipper motif of AF10 onto the HRX gene. Blood (1995) 1.22

Pulmonary arteriovenous shunting in children with liver disease. J Pediatr (1995) 1.22

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr (1981) 1.20

Liver disease associated with anti-liver-kidney microsome antibody in children. J Pediatr (1986) 1.19

bcl-2 transgene expression can protect neurons against developmental and induced cell death. Proc Natl Acad Sci U S A (1995) 1.18

Organization and expression of murine immunoglobulin genes. Immunol Rev (1981) 1.17

Transport of nucleosides. Ann N Y Acad Sci (1975) 1.17

Anti-liver kidney microsome antibody recognizes a cytochrome P450 from the IID subfamily. J Exp Med (1988) 1.16

Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients. Pediatr Res (2001) 1.15

Immortalization of mouse neural precursor cells by the c-myc oncogene. Proc Natl Acad Sci U S A (1988) 1.15

Autoimmune hepatitis associated with anti-actin antibodies in children and adolescents. J Pediatr Gastroenterol Nutr (1993) 1.15

DNA replication in isolated HeLa cell nuclei. Biochem Biophys Res Commun (1973) 1.14

Constitutively active STAT5 variants induce growth and survival of hematopoietic cells through a PI 3-kinase/Akt dependent pathway. Oncogene (2001) 1.11

Transgenic mice expressing human Bcl-2 in their neurons are resistant to 6-hydroxydopamine and 1-methyl-4-phenyl-1,2,3,6- tetrahydropyridine neurotoxicity. Proc Natl Acad Sci U S A (1998) 1.11

Bacterial cholangitis after surgery for biliary atresia. J Pediatr (1987) 1.10

Implication of Bcl-2 and Caspase-3 in age-related Purkinje cell death in murine organotypic culture: an in vitro model to study apoptosis. Eur J Neurosci (2000) 1.10

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG). J Inherit Metab Dis (2010) 1.10

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. Mol Genet Metab (2011) 1.10

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am J Hum Genet (2001) 1.09

A novel translocation, t(14;19)(q32;p13), involving IGH@ and the cytokine receptor for erythropoietin. Leukemia (2008) 1.08

Urea cycle defects: management and outcome. J Inherit Metab Dis (2005) 1.08

GATA-and SP1-binding sites are required for the full activity of the tissue-specific promoter of the tal-1 gene. Oncogene (1994) 1.08

Update on Anti-Saccharomyces cerevisiae antibodies, anti-nuclear associated anti-neutrophil antibodies and antibodies to exocrine pancreas detected by indirect immunofluorescence as biomarkers in chronic inflammatory bowel diseases: results of a multicenter study. World J Gastroenterol (2007) 1.06

Mitochondria and diabetes mellitus: untangling a conflictive relationship? J Inherit Metab Dis (2009) 1.06

Anti-liver-kidney microsome antibody type 1 recognizes human cytochrome P450 db1. Biochem Biophys Res Commun (1989) 1.05

Efficacy and tolerability of racecadotril in acute diarrhea in children. Gastroenterology (2001) 1.05

Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol (2006) 1.05

A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. J Pediatr (1994) 1.04

Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease). Eur J Pediatr (1994) 1.03

LIM-kinase1. Int J Biochem Cell Biol (1999) 1.03

Emergency liver transplantation for fulminant liver failure in infants and children. Hepatology (1992) 1.03

Mouse LIM-kinase 2 gene: cDNA cloning, genomic organization, and tissue-specific expression of two alternatively initiated transcripts. Genomics (1997) 1.02

LIM-kinase 2, a regulator of actin dynamics, is involved in mitotic spindle integrity and sensitivity to microtubule-destabilizing drugs. Oncogene (2009) 1.02

Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr Radiol (1995) 1.02