(Q71589721)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8831077%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8831077%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

1 reference

H G Eiken

1

1 reference

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19 October 2019

P M Knappskog

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8831077%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

K Motzfeldt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8831077%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

H Boman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8831077%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

J Apold

5

1 reference

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19 October 2019

publication date

1 July 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8831077%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

19 October 2019

published in

1 reference

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19 October 2019

volume

155

1 reference

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19 October 2019

page(s)

554-560

1 reference

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19 October 2019

issue

7

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf01957904

19 October 2019

exact match

0 references

cites work

Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications

1 reference

12 December 2020

PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems

1 reference

12 December 2020

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations

1 reference

12 December 2020

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics

1 reference

12 December 2020

In vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants

1 reference

12 December 2020

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus

1 reference

12 December 2020

Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation

1 reference

12 December 2020

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12

1 reference

12 December 2020

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

1 reference

12 December 2020

The genetic contribution to the phenotype

1 reference

12 December 2020

Phenylketonuria with normal intelligence.

1 reference

12 December 2020

Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote

1 reference

12 December 2020

DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations

1 reference

12 December 2020

Expression of wild type and mutant forms of human phenylalanine hydroxylase in E. coli.

1 reference

12 December 2020

Comparison of genotype and intellectual phenotype in untreated PKU patients

1 reference

12 December 2020

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

1 reference

12 December 2020

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

1 reference

12 December 2020

Failure to detect phenylketonuria

1 reference

12 December 2020

Genotype-phenotype correlations in phenylketonuria.

1 reference

12 December 2020

Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.

1 reference

12 December 2020

Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01957904

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8831077%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference