kw.\*:("Tirosinemia")
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Treatment of hereditary tyrosinaemia (fumarylacetoacetase deficiency) by enzyme substitutionLINDBLAD, B; FRIDEN, J; GRETER, J et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 257-261, issn 0141-8955, suppl. 2Conference Paper
Neurologic crises in hereditary tyrosinemiaMITCHELL, G; LAROCHELLE, J; KHAZAL PARADIS et al.The New England journal of medicine. 1990, Vol 322, Num 7, pp 432-437, issn 0028-4793Article
Hereditary tyrosinemia: formation of succinylacetone ― Amino acid adductsMANABE, S; SASSA, S; KAPPAS, A et al.The Journal of experimental medicine. 1985, Vol 162, Num 3, pp 1060-1074, issn 0022-1007Article
A propos de deux cas de tyrosinose de type II (syndrome de Richner-Hanhart) = About two cases of tyrosinosis II (Richner-Hanhart syndrome)ROUSSAT, B; FOURNIER, F; BESSON, D et al.Bulletin des sociétés d'ophtalmologie de France. 1988, Vol 88, Num 6-7, pp 751-757, issn 0081-1270Article
Visceral pathology of hereditary tyrosinemia type IRUSSO, P; O'REGAN, S.American journal of human genetics. 1990, Vol 47, Num 2, pp 317-324, issn 0002-9297, 8 p.Article
Hereditary tyrosinemia type I: an overviewKVITTINGEN, E. A.Scandinavian journal of clinical & laboratory investigation. Supplement. 1986, Vol 46, Num 184, pp 27-34, issn 0085-591XArticle
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)TANGUAY, R. M; VALET, J. P; LESCAULT, A et al.American journal of human genetics. 1990, Vol 47, Num 2, pp 308-316, issn 0002-9297, 9 p.Article
Tyrosinaemia type II (Richner―Hanhart syndrome): report of two cases treated with etretinateFRASER, N. G; MACDONALD, J; GRIFFITHS, W. A. D et al.Clinical and experimental dermatology (Print). 1987, Vol 12, Num 6, pp 440-443, issn 0307-6938Article
The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetaseKVITTINGEN, E. A; BRODTKORB, E.Scandinavian journal of clinical & laboratory investigation. Supplement. 1986, Vol 46, Num 184, pp 35-40, issn 0085-591XArticle
Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type ILABERGE, C; LESCAULT, A; GRENIER, A et al.American journal of human genetics. 1990, Vol 47, Num 2, pp 329-337, issn 0002-9297, 9 p.Article
Tyrosinemia II: a large North Carolina kindredGOLDSMITH, L. A.Archives of internal medicine (1960). 1985, Vol 145, Num 9, pp 1697-1700, issn 0003-9926Article
Recomendaciones y manejo de la tirosinemia hereditaria Tipo I o Tirosinemia hepatorrenalCOUCE, M. L; ALDAMIZ-ECHEVARRIA, L; LEAO, E et al.Anales de pediatria (2003. Ed. impresa). 2010, Vol 73, Num 5, issn 1695-4033, p. 279Article
Type 1 hereditary tyrosinemia : evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patientPHANEUF, D; LAMBERT, M; LAFRAMBOISE, R et al.The Journal of clinical investigation. 1992, Vol 90, Num 4, pp 1185-1192, issn 0021-9738Article
Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type ILABERGE, C; GRENIER, A; VALET, J. P et al.American journal of human genetics. 1990, Vol 47, Num 2, pp 325-328, issn 0002-9297, 4 p.Article
Clinical and laboratory observations : hematin therapy for the neurologic crisis of tyrosinemiaRANK, J. M; PASCUAL-LEONE, A; PAYNE, W et al.The Journal of pediatrics. 1991, Vol 118, Num 1, pp 136-139, issn 0022-3476Article
Effect of dietary treatment on the renal tubular function in a patient with hereditary tyrosinemiaSUZUKI, Y; KONDA, M; IMAI, I et al.International journal of pediatrics nephrology. 1987, Vol 8, Num 3, pp 171-176, issn 0391-6510Article
Animal models of tyrosinemiaNAKAMURA, Kimitoshi; TANAKA, Yasuhiko; MITSUBUCHI, Hiroshi et al.The Journal of nutrition. 2007, Vol 137, Num 6S, issn 0022-3166, S1556-S1560, SUP1Conference Paper
Tyrosinaemia : treatment and outcomeKVITTINGEN, E. A.Journal of inherited metabolic disease. 1995, Vol 18, Num 4, pp 375-379, issn 0141-8955Conference Paper
Treatment of hereditary tyrosinaemia type I by inhition of 4-hydroxyphenylpyruvate dioxygenaseLINDSTEDT, S; HOLME, E; LOCK, E. A et al.Lancet (British edition). 1992, Vol 340, Num 8823, pp 813-817, issn 0140-6736Article
Une cause rare d'hyperphénylalaninémie néonatale : la tyrosinémie de type I = Tyrosinemia I: a rare cause of neonatal hyperphenylalaninemiaSARLES, J; MAURIN, N; GIRAUD, F et al.Pédiatrie (Marseille). 1992, Vol 47, Num 12, pp 809-811, issn 0031-4021Article
Outcome in tyrosinaemia type IIBARR, D. G. D; KIRK, J. M; LAING, S. C et al.Archives of disease in childhood. 1991, Vol 66, Num 10, pp 1249-1250, issn 0003-9888Article
Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-JeanDE BRAEKELEER, M; LAROCHELLE, J.American journal of human genetics. 1990, Vol 47, Num 2, pp 302-307, issn 0002-9297, 6 p.Article
New forms of hereditary tyrosinemia type II in mink: hepatic tyrosine aminotransferase defectCHRISTENSEN, K; HENRIKSEN, P; SØRENSEN, H et al.Hereditas (Landskrona). 1986, Vol 104, Num 2, pp 215-222, issn 0018-0661Article
Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolismJELLUM, E; HORN, L; THORESEN, O et al.Scandinavian journal of clinical & laboratory investigation. Supplement. 1986, Vol 46, Num 184, pp 21-26, issn 0085-591XArticle
Renal heme metabolism in hereditary tyrosinemia : use of succinylacetone in rat renal tubulesWYSS, P. A; CARTER, B. E; BOYNTON, S. B et al.Biochimica et biophysica acta. Biomembranes. 1991, Vol 1070, Num 2, pp 300-304, issn 0005-2736Article