Maternal phenylketonuria with increased tyrosine supplementsSHEIL, O; DUIGNAN, N; SAUL, I. P et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 231-233, 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

Biosynthesis of tetrahydrobiopterin in manCURTIUS, H.-C; HEINTEL, D; GHISLA, S et al.Journal of inherited metabolic disease. 1985, Vol 8, pp 28-33, issn 0141-8955, suppl. 1Article

Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiencyDHONDT, J.-L; FARRIAUX, J.-P; ABDENNACER BOUDHA et al.The Journal of pediatrics. 1985, Vol 106, Num 6, pp 954-956, issn 0022-3476Article

Dihydropteridine reductase deficiency: clinical, biochemical and therapeutic aspectsCERONE, R; SCALISI, S; COTELLESSA, M et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 244-246, issn 0141-8955, suppl. 2Conference Paper

Maternal hyperphenylalaninaemia in IsraelCOHEN, B. E; SZEINBERG, A; ZARFIN, Y et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 227-230, issn 0141-8955, suppl. 2Conference Paper

Maternal hyperphenylalaninaemia: dietary treatment during pregnancyROMANO, C; CERONE, R; BORRONE, C et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 225-226, issn 0141-8955, suppl. 2Conference Paper

Bilan de 6 années de dépistage des hyperphénylalaninémies par déficit en cofacteur = Screening for cofactor deficiency-induced hyperphenyl alanineuria: evaluatia of a 6 year-experienceDHONDT, J. L; FARRIAUX, J. P; HAYTE, J. M et al.Archives françaises de pédiatrie. 1986, Vol 43, Num 10, pp 785-789, issn 0003-9764Article

Clinical role of pteridine therapy in tetrahydrobiopterin deficiencySMITH, I; HYLAND, K; KENDALL, B et al.Journal of inherited metabolic disease. 1985, Vol 8, pp 39-45, issn 0141-8955, suppl. 1Article

Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two casesLONGHI, R; RIVA, E; VALSASINA, R et al.Journal of inherited metabolic disease. 1985, Vol 8, pp 97-98, issn 0141-8955, suppl. 2Article

Plasma amino acid levels after single-dose aspartame consumption in phenylketonuria, mild hyperphenylalaninemia, and heterozygous state for phenylketonuriaCABALLERO, B; MAHON, B. E; ROHR, F. J et al.The Journal of pediatrics. 1986, Vol 109, Num 4, pp 668-671, issn 0022-3476Article

Hyperphenylalaninaemia caused by defects in biopterin metabolismKAUFMAN, S.Journal of inherited metabolic disease. 1985, Vol 8, pp 20-27, issn 0141-8955, suppl. 1Article

Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiencyBLAU, N; JOLLER, P; ATARES, M et al.Clinica chimica acta. 1985, Vol 148, Num 1, pp 47-52, issn 0009-8981Article

Partial dihydropteridine reductase deficiency and mental retardationSAHOTA, A; LEEMING, R. J; BLAIR, J. A et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 247-249, issn 0141-8955, suppl. 2Conference Paper

Hepatic phenylalanine hydroxylase and dietary tolerance in hyperphenylalaninaemic patientsLARGILLIERE, C; DHONDT, J. L; FARRIAUX, J. P et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 209-211, issn 0141-8955, suppl. 2Conference Paper

Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urineTAKAHASHI, T; KODAMA, S; NISHIO, H et al.Journal of inherited metabolic disease. 1985, Vol 8, Num 3, pp 105-108, issn 0141-8955Article

Follow-up study of 16 years neonatal screening for inborn errors of metabolism in West GermanyMATHIAS, D; BICKEL, H.European journal of pediatrics. 1986, Vol 145, Num 4, pp 310-312, issn 0340-6199Article

Lysosomal protein degradation in experimental hyperphenylalaninaemiaSCHRÖTER, J; SCHOTT, K.-J; PURTILL, M.-A et al.Journal of inherited metabolic disease. 1986, Vol 9, Num 3, pp 273-282, issn 0141-8955Article

Paternal hyperphenylalaninemiaBROWN, E. S.Pediatrics (Evanston). 1986, Vol 78, Num 2, pp 201-205, issn 0031-4005Article

Amino acid depletion in the blood and brain tissue of hyperphenylalaninemic rats is abolished by the administration of additional lysine: a contribution to the understanding of the metabolic defects in phenylketonurioHUETHER, G; KAUS, R; NEUROFF, V et al.Biochemical medicine. 1985, Vol 33, Num 3, pp 334-341, issn 0006-2944Article

A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screeningHSIAO, K.-J; CHEN, C.-H; CHIU, P.-C et al.European journal of pediatrics. 1986, Vol 145, Num 5, pp 409-412, issn 0340-6199Article

Genetic analysis of partial dihydropteridine reductase in families with nental retardationARMSTRONG, R. A; SAHOTA, A; BLAIR, J. A et al.Journal of inherited metabolic disease. 1986, Vol 9, Num 4, pp 400-401, issn 0141-8955Article

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disordersLEDLEY, F. D; LEVY, H. L; WOO, S. L. C et al.The New England journal of medicine. 1986, Vol 314, Num 20, pp 1276-1280, issn 0028-4793Article

The depletion of tryptophan and serotonin in the brain of developing hyperphenylalaninemic rats is abolished by the additional administration of lysineHUETHER, G.Neurochemical research. 1986, Vol 11, Num 12, pp 1663-1668, issn 0364-3190Article

Neonatal screening for dihydropteridine reductase deficiencySAHOTA, A; BLAIR, J. A; BARFORD, P. A et al.Journal of inherited metabolic disease. 1985, Vol 8, pp 99-100, issn 0141-8955, suppl. 2Article