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10 in total

1. Phenylketonuria VIII. Relation between age, serum phenylalanine level, and phenylpyruvic acid excretion.

Authors: M D ARMSTRONG; N L LOW
Journal: Proc Soc Exp Biol Med Date: 1957-01

2. Phenylalanine-hydroxylase activity in hyperphenylalaninaemia.

Authors: P Justice; M E O'Flynn; D Y Hsia
Journal: Lancet Date: 1967-04-29 Impact factor: 79.321

3. Isozymes of phenylalanine hydroxylase.

Authors: J A Barranger; P J Geiger; A Huzino; S P Bessman
Journal: Science Date: 1972-02-25 Impact factor: 47.728

Review 4. Phenylketonuria and its variations. A review of recent developments.

Authors: M E Blaskovics; T L Nelson
Journal: Calif Med Date: 1971-07

5. Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city.

Authors: D N Raine; J R Cooke; W A Andrews; D F Mahon
Journal: Br Med J Date: 1972-07-01

6. Purification and some physical properties of phenylalanine hydroxylase from rat liver.

Authors: S Kaufman; D B Fisher
Journal: J Biol Chem Date: 1970-09-25 Impact factor: 5.157

7. Neonatal hyperphenylalaninemia: a differential diagnosis.

Authors: J H Menkes; N A Holtzman
Journal: Neuropadiatrie Date: 1970-04

8. Maternal phenylketonuria.

Authors: N P Forbes; K N Shaw; R Koch; R W Coffelt; R Straus
Journal: Nurs Outlook Date: 1966-01 Impact factor: 3.250

9. Diagnosis and treatment: interpretation of results of blood screening studies for detection of phenylketonuria.

Authors: H K Berry; B S Sutherland; B Umbarger
Journal: Pediatrics Date: 1966-01 Impact factor: 7.124

10. Atypical phenylketonuric heterozygote. Deficiency in phenylalanine hydroxylase and transaminase activity.

Authors: J A Anderson; R Fisch; E Miller; D Doeden
Journal: J Pediatr Date: 1966-03 Impact factor: 4.406

10 in total

43 in total

1. Study design and description of patients.

Authors: P Lutz; H Schmidt; U Batzler
Journal: Eur J Pediatr Date: 1990 Impact factor: 3.183

2. Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.

Authors: A Ponzone; N Blau; O Guardamagna; G B Ferrero; I Dianzani; W Endres
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

3. Diagnosis in relationship to treatment of hyperphenylalaninaemia.

Authors: M E Blaskovics
Journal: J Inherit Metab Dis Date: 1986 Impact factor: 4.982

4. RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene.

Authors: F K Trefz; M Yoshino; A Nishiyori; F Aengeneyndt; B Schmidt-Mader; U Lichter-Konecki; D S Konecki
Journal: Hum Genet Date: 1990-06 Impact factor: 4.132

5. Deficits in selective and sustained attention processes in early treated children with phenylketonuria--result of impaired frontal lobe functions?

Authors: J Weglage; M Pietsch; B Funders; H G Koch; K Ullrich
Journal: Eur J Pediatr Date: 1996-03 Impact factor: 3.183

6. Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.

Authors: U Langenbeck; P Burgard; U Wendel; M Lindner; J Zschocke
Journal: J Inherit Metab Dis Date: 2009-07-16 Impact factor: 4.982

7. Haplotype distribution and mutations at the PAH locus in Croatia.

Authors: I Barić; D Mardesić; G Gjurić; V Sarnavka; B Göbel-Schreiner; U Lichter-Konecki; D S Konecki; F K Trefz
Journal: Hum Genet Date: 1992 Sep-Oct Impact factor: 4.132

8. Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome.

Authors: J Weglage; K Ullrich; M Pietsch; B Fünders; R Zass; H G Koch
Journal: Eur J Pediatr Date: 1996-07 Impact factor: 3.183

9. In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.

Authors: P Guldberg; I Mikkelsen; K F Henriksen; H C Lou; F Güttler
Journal: Eur J Pediatr Date: 1995-07 Impact factor: 3.183

10. Standardized loading test with protein for the differentiation of phenylketonuria from hyperphenylalaninaemia.

Authors: P Lutz; H Schmidt; G Frey; H Bickel
Journal: J Inherit Metab Dis Date: 1982 Impact factor: 4.982