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2. 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]
3. [Congenital disorders of phenylalanine metabolism]. Rampini S Schweiz Med Wochenschr; 1973 Apr; 103(15):537-46. PubMed ID: 4572324 [No Abstract] [Full Text] [Related]
5. [Limitations of the classification and nomenclature of hyperphenylalaninemia]. Wolff O; Smith I; Beasley M Arch Fr Pediatr; 1987; 44 Suppl 1():635-8. PubMed ID: 3449008 [No Abstract] [Full Text] [Related]
6. [The pediatrician and early detection of hyperphenylalaninemia. Study Group on Hyperphenylalaninemia)]. An Esp Pediatr; 1993 May; 38(5):477. PubMed ID: 8503599 [No Abstract] [Full Text] [Related]
7. [Value of the assay of urine ortho-hydroxyphenylacetic acid in hyperphenylalaninemia]. Dhondt JL; Cartigny B; Farriaux JP Ann Biol Clin (Paris); 1974; 32(6):499-506. PubMed ID: 4468743 [No Abstract] [Full Text] [Related]
8. Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. Matalon R; Michals K; Blau N; Rouse B Adv Pediatr; 1989; 36():67-89. PubMed ID: 2675577 [No Abstract] [Full Text] [Related]
9. [Clinical diagnosis of hyperphenylalaninemia in the newborn infant and infant stages]. Simková M; Hyánek J; Karger P; Hoza J; Holub J; Viletová H Cesk Pediatr; 1976 Nov; 31(11):619-21. PubMed ID: 1035139 [No Abstract] [Full Text] [Related]
10. [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]
11. [Phenylalanine metabolites in the urine after oral phenylalanine loading. Significance for the discrimination between classical phenylketonuria and variations of hyperphenylalaninemia (heterozygotes and homozygotes)]. Koepp P Fortschr Med; 1977 Mar; 95(10):627-31. PubMed ID: 844759 [TBL] [Abstract][Full Text] [Related]
12. Hyperphenylalaninemias and tyrosinemias. Berry HK Clin Perinatol; 1976 Mar; 3(1):15-40. PubMed ID: 954342 [No Abstract] [Full Text] [Related]
15. [Hyperphenylalaninemia and other hyperaminoacidurias with mental retardation, detected by multiple screening]. Hyánek J Cas Lek Cesk; 1972; 111(8):176-8. PubMed ID: 5010326 [No Abstract] [Full Text] [Related]
16. A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia. Guldberg P; Lou HC; Henriksen KF; Mikkelsen I; Olsen B; Holck B; Güttler F Hum Mol Genet; 1993 Jul; 2(7):1061-2. PubMed ID: 8364546 [No Abstract] [Full Text] [Related]
17. [The problem in the differential diagnosis of various forms of hyperphenylalaninemia and in its diet therapy]. Zammarchi E Minerva Pediatr; 1977 Apr; 29(12):873-7. PubMed ID: 559914 [No Abstract] [Full Text] [Related]
19. 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]
20. [Paper samples in detection and confirmation of some anomalies of amino acid metabolism]. Charpentier C; Lemonnier A Ann Biol Clin (Paris); 1969; 27(5):297-323. PubMed ID: 4897889 [No Abstract] [Full Text] [Related] [Next] [New Search]