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4. Review of current practices in management of inherited disorders of amino acid metabolism in Western Europe. Wachtel U Hum Nutr Appl Nutr; 1986; 40 Suppl 1():61-9. PubMed ID: 3528074 [TBL] [Abstract][Full Text] [Related]
5. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Güttler F Acta Paediatr Scand Suppl; 1980; 280():1-80. PubMed ID: 7006308 [No Abstract] [Full Text] [Related]
6. Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. Eisensmith RC; Woo SL Hum Mutat; 1992; 1(1):13-23. PubMed ID: 1301187 [TBL] [Abstract][Full Text] [Related]
7. [Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency]. Rey F; Munnich A; Lyonnet S; Rey J Arch Fr Pediatr; 1987; 44 Suppl 1():639-42. PubMed ID: 3329492 [No Abstract] [Full Text] [Related]
8. [Current aspects of hyperphenylalaninemia]. Segrè A; Giovannini M; Riva E Minerva Pediatr; 1977 Apr; 29(15):1037-46. PubMed ID: 17825 [No Abstract] [Full Text] [Related]
9. Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. Daniele A; Scala I; Cardillo G; Pennino C; Ungaro C; Sibilio M; Parenti G; Esposito L; Zagari A; Andria G; Salvatore F FEBS J; 2009 Apr; 276(7):2048-59. PubMed ID: 19292873 [TBL] [Abstract][Full Text] [Related]
10. Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12. Svensson E; Eisensmith RC; Dworniczak B; von Döbeln U; Hagenfeldt L; Horst J; Woo SL Hum Mutat; 1992; 1(2):129-37. PubMed ID: 1301200 [TBL] [Abstract][Full Text] [Related]
11. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG Hum Mutat; 1998; 12(4):267-73. PubMed ID: 9744478 [TBL] [Abstract][Full Text] [Related]
12. The enzymes of the hepatic phenylalanine hydroxylating system. Kaufman S J Inherit Metab Dis; 1978; 1(2):63-5. PubMed ID: 117244 [No Abstract] [Full Text] [Related]
13. Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes. DiSilvestre D; Koch R; Groffen J Am J Hum Genet; 1991 May; 48(5):1014-6. PubMed ID: 2018035 [No Abstract] [Full Text] [Related]
14. Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia. Pogson D J Intellect Disabil Res; 1997 Jun; 41 ( Pt 3)():208-14. PubMed ID: 9219069 [TBL] [Abstract][Full Text] [Related]
15. Genetic disorders involving recycling and formation of tetrahydrobiopterin. Kaufman S Adv Pharmacol; 1998; 42():41-3. PubMed ID: 9327841 [No Abstract] [Full Text] [Related]
16. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. Thöny B; Ding Z; Martínez A FEBS Lett; 2004 Nov; 577(3):507-11. PubMed ID: 15556637 [TBL] [Abstract][Full Text] [Related]
17. On the mechanism of permanent brain dysfunction in hyperphenylalaninemia. Hommes FA Biochem Med Metab Biol; 1991 Dec; 46(3):277-87. PubMed ID: 1793607 [No Abstract] [Full Text] [Related]
18. Nature of the molecular defect in phenylketonuria and hyperphenylalaninaemia. Friedman PA; Kaufman S; Kang ES Nature; 1972 Nov; 240(5377):157-9. PubMed ID: 4118080 [No Abstract] [Full Text] [Related]
19. Genotype-phenotype correlation in dihydropteridine reductase deficiency. de Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Biasucci G; Meli C; Zammarchi E; Coskun T; Blau N; Ponzone A; Dianzani I J Inherit Metab Dis; 2000 Jun; 23(4):333-7. PubMed ID: 10896287 [No Abstract] [Full Text] [Related]
20. Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience. Carter KC; Byck S; Waters PJ; Richards B; Nowacki PM; Laframboise R; Lambert M; Treacy E; Scriver CR Eur J Hum Genet; 1998 Jan; 6(1):61-70. PubMed ID: 9781015 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]