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kw.\*:("Hyperphenylalaninemia")

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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

DIAGNOSIS OF VARIANTS OF HYPERPHENYLALANIMEMIA BY DETERMINATION OF PTERINS IN URINEDHONDT JL; LARGILLIERE C; ARDOUIN P et al.1981; CLIN. CHIM. ACTA; ISSN 0009-8981; NLD; DA. 1981; VOL. 110; NO 2-3; PP. 205-214; BIBL. 24 REF.Article

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

Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemiaFEILLET, Francois; CHERY, Céline; NAMOUR, Fares et al.Early human development. 2008, Vol 84, Num 9, pp 561-567, issn 0378-3782, 7 p.Article

INHIBITION OF CEREBRAL PROTEIN KINASE ACTIVITY AND CYCLIC AMP-DEPENDENT RIBOSOMAL-PROTEIN PHOSPHORYLATION IN EXPERIMENTAL HYPERPHENYLALANINAEMIAROBERTS S; MORELOS BS.1982; BIOCHEM. J. (LOND.); ISSN 0006-2936; GBR; DA. 1982; VOL. 202; NO 2; PP. 343-351; BIBL. 44 REF.Article

CHRONIC HYPERPHENYLALANINEMIA PRODUCES CEREBRAL HYPERGLYCINEMIA IN IMMATURE RATSDIENEL GA.1981; J. NEUROCHEM.; ISSN 0022-3042; GBR; DA. 1981; VOL. 36; NO 1; PP. 34-43; BIBL. 2 P.Article

6-Pyruvoyltetrahydropterin synthase deficiency two-case reportPANGKANON, Suthipong; CHAROENSIRIWATANA, Wiyada; LIAMSUWAN, Sahas et al.Chot Mai Het Thang Phaet. 2006, Vol 89, Num 6, pp 872-877, issn 0125-2208, 6 p.Article

Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemiaWAISBREN, S. E; SCHNELL, R; LEVY, H. L et al.The Journal of pediatrics. 1984, Vol 105, Num 6, pp 955-958, issn 0022-3476Article

Tetrahydrobiopterin deficiencies: preliminary analysis an international surveyDHONDT, J.-L.The Journal of pediatrics. 1984, Vol 104, Num 4, pp 501-508, issn 0022-3476Article

96. Pterin chemistry. Part 921 : Loading experiments with 6α,β-tetrahydro-L-[3'-2H1]biopterinADLER, C; CURTIUS, H.-C; WETZEL, E et al.Helvetica chimica acta. 1992, Vol 75, Num 4, pp 1237-1244, issn 0018-019XArticle

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

Current status of biopterin screeningMATALON, R.The Journal of pediatrics. 1984, Vol 104, Num 4, pp 579-581, issn 0022-3476Article

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

Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetusLEVY, H. L; WAISBREN, S. E.The New England journal of medicine. 1983, Vol 309, Num 21, pp 1269-1274, issn 0028-4793Article

TETRAHYDROFOLATE AND HYDROXOCOBALAMIN IN THE MANAGEMENT OF DIHYDROPTERIDINE REDUCTASE DEFICIENCYLEEMING RJ; HARPEY JP; BROWN SM et al.1982; J. MENT. DEFIC. RES.; ISSN 0022-264X; GBR; DA. 1982; VOL. 26; NO 1; PP. 21-25; BIBL. 14 REF.Article

EFFECT OF LEAD ON TETRAHYDROBIOPTERIN SYNTHESIS AND SALVAGE: A CAUSE OF NEUROLOGICAL DYSFUNCTIONPURDY SE; BLAIR JA; LEEMING RJ et al.1981; INT. J. ENVIRON. STUD.; ISSN 0020-7233; GBR; DA. 1981; VOL. 17; NO 2; PP. 141-145; BIBL. 35 REF.Article

THE ASSAY ON A DEFINED MEDIUM OF THE EFFECTS OF BETA -2-THIENYLALANINE ON THE GROWTH OF ANAEROBIC BACTERIAL ISOLATES FROM PHENYLKETONURIC PATIENTSBROWN KJ; VESEY BV; TANNOCK GW et al.1980; MED. MICROBIOL. IMMUNOL.; DEU; DA. 1980; VOL. 168; NO 1; PP. 11-24; BIBL. 40 REF.Article

A PROPOS D'UNE OBSERVATION D'HYPERPHENYLALANINEMIE SANS PHENYLCETONURIE.FESSARD C; AMAR R; DAILLY R et al.1977; OUEST MED.; FR.; DA. 1977; VOL. 30; NO 6; PP. 371-372Article

DIHYDROPTERIDINE REDUCTASE DEFICIENCY: DIAGNOSIS BY LEUKOCYTE ENZYME ASSAYNARISAWA K; ARAI N; ISHIZAWA S et al.1980; CLIN. CHIM. ACTA; NLD; DA. 1980; VOL. 105; NO 3; PP. 335-342; BIBL. 37 REF.Article

LA DIFFERENZIAZIONE DELLE IPERFENILALANINEMIE MEDIANTE DIETA DA CARICO. = LA DIFFERENCIATION DES HYPERPHENYLALANINEMIES AU MOYEN DU REGIME DE CHARGEZAMMARCHI E; BARDINI MR; DE NIGRIS L et al.1978; MINERVA PEDIATR.; ITA; DA. 1978; VOL. 30; NO 9; PP. 713-726; ABS. ANGL.; BIBL. 13 REF.Article

HYPERPHENYLALANINAEMIA DUE TO DIHYDROPTERIDINE REDUCTASE DEFICIENCYGROBE H; BARTHOLOME K; MILSTIEN S et al.1978; EUROP. J. PEDIATR.; DEU; DA. 1978; VOL. 129; NO 2; PP. 93-98; BIBL. 18 REF.Article

ON INDICATIONS FOR TREATMENT OF THE HYPERPHENYLALANINEMIC NEONATE.GUTTLER F; WAMBERG E.1977; ACTA PAEDIATR. SCAND.; SUEDE; DA. 1977; VOL. 66; NO 3; PP. 339-344; BIBL. 20 REF.Article

LE DEPISTAGE SYSTEMATIQUE EN PICARDIE DE L'HYPOTHYROIDIE CONGENITALE ET DE L'HYPERPHENYLALAMINEMIEBOUDAILLIEZ B; LENAERTS C; PIUSSAN C et al.1982; REVUE MEDICALE DE PICARDIE; ISSN 0301-116X; FRA; DA. 1982; VOL. 10; NO 9; PP. 354-356; BIBL. 5 REF.Article

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