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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

Dietary threonine reduces plasma phenylalanine levels in patients with hyperphenylalaninemiaSANJURJO, P; ALDAMIZ, L; GEORGI, G et al.Journal of pediatric gastroenterology and nutrition. 2003, Vol 36, Num 1, pp 23-26, issn 0277-2116, 4 p.Article

A CLINICAL EPIDEMIOLOGIC STUDY OF HYPERPHENYLALANINEMIAWRONA RM.1979; AMER. J. PUBLIC HEALTH; USA; DA. 1979; VOL. 69; NO 7; PP. 673-679; BIBL. 29 REF.Article

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

A PROPOS DU DEPISTAGE NEONATAL DES HYPERPHENYLALANINEMIES ET DES HYPERTYROSINEMIES.DHONDT JL; FARRIAUX JP.1977; ARCH. FR. PEDIATR.; FR.; DA. 1977; VOL. 34; NO 5; PP. 474-475; BIBL. 8 REF.Article

HYPERPHENYLALANINEMIE INDUITE PAR LA PYRIMETHAMINE.COSTIL J; RICHARDET JM; AYMARD P et al.1976; NOUV. PRESSE MED.; FR.; DA. 1976; VOL. 5; NO 26; PP. 1646-1647; BIBL. 2 REF.Article

Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuriaHENNERMANN, Julia B; LOUI, Andrea; WEBER, Astrid et al.Journal of perinatal medicine. 2004, Vol 32, Num 4, pp 383-385, issn 0300-5577, 3 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

Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuriaTREFZ, Friedrich K; BLAU, Nenad.Pediatrics (Evanston). 2003, Vol 112, Num 6, pp 1566-1569, issn 0031-4005, 4 p., 2Conference Paper

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

PTERIN METABOLISM IN NORMAL SUBJECTS AND HYPERPHENYLALANINAEMIC PATIENTSDHONDT JL; FARRIAUX JP; LARGILLIERE C et al.1981; J. INHERIT. METAB. DIS.; ISSN 0141-8955; GBR; DA. 1981; VOL. 4; NO 2; PP. 47-48; BIBL. 11 REF.Article

LA PHENYCETONURIE "TRANSITOIRE"REY F; LEEMING RJ; CURTIUS HC et al.1979; ARCH. FR. PEDIATR.; FRA; DA. 1979 PUBL. 1980; VOL. 36; SUPPL. 1; PP. XLVIII-LV; ABS. ENG; BIBL. 28 REF.Article

L'IPERFENILALANINEMIA MATERNA COME CAUSA DI EMBRIOFETOPATIA: RASSEGNA DELLA LETTERATURA E CONTRIBUTO CLINICO = L'HYPERPHENYLALANINEMIE MATERNELLE EN TANT QUE CAUSE D'EMBRYO-FOETOPATHIE: REVUE DE LA LITTERATURE ET CONTRIBUTION CLINIQUEGIOVANNINI M; RIVA E; MAGNONI D et al.1979; MINERVA PEDIATR.; ITA; DA. 1979; VOL. 31; NO 8; PP. 615-624; ABS. ENG; BIBL. 2 P.Article

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

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

Biopterin synthesis defect: treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterinMCINNES, R. R; KAUFMAN, S; WARSH, J. J et al.The Journal of clinical investigation. 1984, Vol 73, Num 2, pp 458-469, issn 0021-9738Article

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