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Review 1. Undiagnosed phenylketonuria in adult women: a hidden public health problem.

Authors: W B Hanley; J T Clarke; W E Schoonheyt
Journal: CMAJ Date: 1990-09-15 Impact factor: 8.262

2. Study design and description of patients.

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

3. Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

Authors: T Wang; Y Okano; R Eisensmith; S Z Huang; Y T Zeng; W H Lo; S L Woo
Journal: Am J Hum Genet Date: 1989-11 Impact factor: 11.025

4. Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

Authors: P Guldberg; H L Levy; W B Hanley; R Koch; R Matalon; B M Rouse; F Trefz; F de la Cruz; K F Henriksen; F Güttler
Journal: Am J Hum Genet Date: 1996-07 Impact factor: 11.025

5. Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.

Authors: F Güttler; H Lou; C Lykkelund; A Niederwieser
Journal: Eur J Pediatr Date: 1984-06 Impact factor: 3.183

6. Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.

Authors: P Guldberg; H L Levy; R Koch; C M Berlin; B Francois; K F Henriksen; F Güttler
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982

7. Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

Authors: E Svensson; L Iselius; L Hagenfeldt
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982

8. Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method.

Authors: F Güneral; I Ozalp; H Tatlidil
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

9. A Chinese family with phenylketonuria and maternal phenylketonuria detected by family screening.

Authors: K J Hsiao; C H Chen; P C Chiu; S C Huang; K D Wuu
Journal: Eur J Pediatr Date: 1986-10 Impact factor: 3.183

10. Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia.

Authors: L Kozák; D Dvoráková; A Pijácková; J Kamarýt
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982