kw.\*:("Fenilcetonuria")
Results 1 to 25 of 1271
Selection :
Impact of medical genetics concerning phenylketonuria : accomplishments, status and practical future possibilitiesGUTTLER, F.Clinical genetics. 1989, Vol 36, Num 5, pp 333-334, issn 0009-9163, 2 p.Conference Paper
Atypical phenylketonuria with mild mental retardation caused by tetrahydrobiopterin deficiency in a Chinese familyHSIAO, K. J; CHIU, P.-C; CHENG, W.-H et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 240-243, issn 0141-8955, suppl. 2Conference Paper
Magnesium-deficient rickets in a phenylketonuric patient on dietary treatmentROTTOLI, A; RIVA, E; ZECCHINI, G et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 215-217, issn 0141-8955, suppl. 2Conference Paper
Incidence of phenylketonuria and hyperphenylalaninaemia in a sample of the Turkish newborn populationOZALP, I; COSKUN, T; CEYHAN, M et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 237-239, issn 0141-8955, suppl. 2Conference Paper
Screening for phenylketonuria in Yugoslavia (SR Croatia) 1979―1984MARDESIC, D; GJURIC, G; JANCIKOVIC, J et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 234-236, issn 0141-8955, suppl. 2Conference Paper
Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading testBLITZER, M. G; BAILEY-WILSON, J. E; SHAPIRA, E et al.Clinica chimica acta. 1985, Vol 153, Num 2, pp 137-142, issn 0009-8981Article
Clinical application of genotypic diagnosis for phenylketonuria : theoretical considerationsLEDLEY, F. D.European journal of pediatrics. 1991, Vol 150, Num 11, pp 752-756, issn 0340-6199Article
Platelet phenylalanine hydroxylating activity in phenylketonurics and normal controlsUEBELHACK, R; FRANKE, L; KUTTER, D et al.Biochemical medicine. 1985, Vol 34, Num 3, pp 376-379, issn 0006-2944Article
Plasma amino acid concentrations and amino acid ratios in normal adults and adults heterozygous for phenylketonuria ingesting a hamburger and milk shake mealSTEGINK, L. D; FILER, L. J; BRUMMEL, M. C et al.The American journal of clinical nutrition. 1991, Vol 53, Num 3, pp 670-675, issn 0002-9165Article
Dermatoglyphic study in children with phenylketonuriaBALCI, S; TANZER, F; ATASU, M et al.Journal of inherited metabolic disease. 1989, Vol 12, Num 3, pp 323-326, issn 0141-8955Article
Etats sclérodermiformes et phénylcétonurie (PKU): rôle de l'hyperphénylalaninémie, efficacité du régime ? (3 cas) = Scleroderma-like lesions and phenylketonuria. Efficacy of phenylalanine, restricted diet (3 cases)BODEMER, C; BONNEFONT, J. P; SAUDUBRAY, J. M et al.Annales de dermatologie et de vénéréologie. 1989, Vol 116, Num 11, pp 798-800, issn 0151-9638, 3 p.Conference Paper
Blood phenylalanine estimation for the patient with phenylketonuria using a portable devicePETERSON, K; SLOVER, R; GASS, S et al.Biochemical medicine and metabolic biology. 1988, Vol 39, Num 1, pp 98-104, issn 0885-4505Article
Study of phenylketonuria incidence in thai childrenVARUNEE KIETDURIYAKUL; PIMPAN LEANGPHIBUL; KHAJOHN TONGKITTIKUL et al.Chot Mai Het Thang Phaet. 1988, Vol 71, Num 5, pp 258-261, issn 0125-2208Article
PhenylketonuriaKOCH, R; WENZ, E.Annual review of nutrition. 1987, Vol 7, pp 117-135, issn 0199-9885Article
Effects of stopping phenylalanine-restricted diet on intellectual progress of children with phenylketonuriaCERONE, R; SCALISI, S; SCHIAFFINO, M. C et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 223-224, issn 0141-8955, suppl. 2Conference Paper
Termination of strict diet in phenylketonuria: neurophysiological, psychological and biochemical studiesBEHBEHANI, A. W; VOLLRATH, M; MATSCHKE, I et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 218-222, issn 0141-8955, suppl. 2Conference Paper
Serum lipid concentrations in subjects with phenylketonuria and their familiesDECLUE, T. J; DAVIS, J; SCHOCKEN, D. M et al.American journal of diseases of children (1960). 1991, Vol 145, Num 11, pp 1266-1268, issn 0002-922XArticle
Children with phenylketonuria : the interface of family and child functioningSHULMAN, S; FISCH, R. O; ZEMPEL, C. E et al.Journal of developmental and behavioral pediatrics. 1991, Vol 12, Num 5, pp 315-321, issn 0196-206XArticle
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiencyHOWELLS, D. W; FORREST, S. M; DAHL, H.-H. M et al.American journal of human genetics. 1990, Vol 47, Num 2, pp 279-285, issn 0002-9297, 7 p.Article
Phenylalanine metabolites as indicators of dietary compliance in children with phenylketonuriaMICHALS, K; LOPUS, M; MATALON, R et al.Biochemical medicine and metabolic biology. 1988, Vol 39, Num 1, pp 18-23, issn 0885-4505Article
Aspartame-sweetened beverage: effect on plasma amino acid concentrations in normal adults and adults heterozygous for phenylketonuriaSTEGINK, L. D; WOLF-NOVAK, L. C; FILER, L. J. JR et al.The Journal of nutrition. 1987, Vol 117, Num 11, pp 1989-1995, issn 0022-3166Article
Significant phenylalanine hydroxylation in vivo patients with classical phenylketonuriaTHOMPSON, G. N; HALLIDAY, D.The Journal of clinical investigation. 1990, Vol 86, Num 1, pp 317-322, issn 0021-9738Article
La tétrahydrobioptérine: métabolisme normal et pathologique = Tetrahydrobiopterin: normal and pathological metabolismDHONDT, J. L.La Médecine infantile (Paris). 1986, Vol 93, Num 5, pp 535-544, issn 0025-6773, 6 p.Article
Children of fathers with phenylketonuria : an international surveyFISCH, R. O; MATALON, R; WEISBERG, S et al.The Journal of pediatrics. 1991, Vol 118, Num 5, pp 739-741, issn 0022-3476Article
Préparation psychologique pour l'éducation d'enfants traités pour une phénylkétonurieBELOPOL'SKAYA, N. L.Defektologiâ. 1988, Num 2, pp 69-75, issn 0130-3074Article