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

Induction of hyperphenylalaninemia in mice by ethionine and phenylalanineSCHOTT, K; GEHRMANN, J; NEUHOFF, V et al.Biochemical medicine and metabolic biology. 1986, Vol 36, Num 1, pp 106-113, issn 0885-4505Article

Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolismKAUFMAN, S.The Journal of pediatrics. 1986, Vol 109, Num 4, pp 572-578, issn 0022-3476Article

Study of serum ferritin in 58 children with classic phenylketonuria and persistent hyperphenylalaninaemiaSCAGLIONI, S; ZUCCOTTI, G; VEDOVELLO, M et al.Journal of inherited metabolic disease. 1985, Vol 8, Num 3, issn 0141-8955, 160Article

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

Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant proteinCOTTON, R. G. H; JENNINGS, I; BRACCO, G et al.Journal of inherited metabolic disease. 1986, Vol 9, Num 3, pp 239-243, issn 0141-8955Article

Biopterin, neopterin and tyrosine responses to combined oral phenylalanine and tetrahydrobiopterin loading tests in two normal children and in a girl with partial biopterin deficiencyLYKKELUND, C; LOU, H. C; RASMUSSEN, V et al.Journal of inherited metabolic disease. 1985, Vol 8, pp 95-96, issn 0141-8955, suppl. 2Article

Enzymes in genetics and metabolismAdvances in clinical enzymology. 1987, Vol 5, pp 26-86, issn 0250-4197Conference Paper

Psychosoziale Aspekte bei der Behandlung der Phenylketonurie = Aspects psychosociaux du traitement de la phénylcétonurie = Psycholosocial aspects in the treatment of phenylketonuriaSCHWEITZER, S; WOLFF, G; BRODEHL, J et al.Klinische Pädiatrie. 1987, Vol 199, Num 2, pp 90-94, issn 0300-8630Article

A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiencyCOTTON, R. G. H.Journal of inherited metabolic disease. 1986, Vol 9, Num 1, pp 4-14, issn 0141-8955Article

Amino acidaemias and brain maturation: interference with sulphate activation and myelin metabolismHOMMES, F. A.Journal of inherited metabolic disease. 1985, Vol 8, pp 121-122, issn 0141-8955, suppl. 2Article