(Q41699290)

English

Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population

scientific article published on November 1999

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scholarly article

1 reference

Europe PubMed Central

7 October 2017

Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population (English)

1 reference

Europe PubMed Central

7 October 2017

0 references

phenylketonuria

1 reference

based on heuristic

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author name string

Enns GM

1

1 reference

Europe PubMed Central

7 October 2017

Martinez DR

2

1 reference

Europe PubMed Central

7 October 2017

Kuzmin AI

3

1 reference

Europe PubMed Central

7 October 2017

Koch R

4

1 reference

Europe PubMed Central

7 October 2017

Wakeem CK

5

1 reference

Europe PubMed Central

7 October 2017

Woo SL

6

1 reference

Europe PubMed Central

7 October 2017

Eisensmith RC

7

1 reference

Europe PubMed Central

7 October 2017

Packman S

8

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Europe PubMed Central

7 October 2017

language of work or name

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publication date

1 November 1999

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Europe PubMed Central

7 October 2017

Pediatric Research

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Europe PubMed Central

7 October 2017

46

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Europe PubMed Central

7 October 2017

594-602

1 reference

Europe PubMed Central

7 October 2017

5

1 reference

Europe PubMed Central

7 October 2017

https://scigraph.springernature.com/pub.10.1203/00006450-199911000-00017

0 references

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Genotype-phenotype correlations in phenylketonuria.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Association of ambiguous genitalia with VATER anomalies and its significance in management

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Comparison of genotype and intellectual phenotype in untreated PKU patients

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Classic phenylketonuria: Diagnosis through heterozygote detection

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Apparent higher frequency of phenylketonuria in the Mexican state of Jalisco

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Pathogenesis of different clinical outcomes in spite of identical genotypes and comparable blood phenylalanine concentrations in phenylketonurics.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

High dose pancreatic enzymes in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Phenylketonuric patients decades after diet.

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1203%2F00006450-199911000-00017

21 January 2018

Identifiers

10.1203/00006450-199911000-00017

1 reference

Europe PubMed Central

7 October 2017

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1 reference

Europe PubMed Central

7 October 2017

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