(Q39805592)

14 September 2017

0 references

An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria (English)

1 reference

14 September 2017

1 reference

1

Scriver CR

1 reference

PMC publication ID

508850

14 September 2017

language of work or name

English

0 references

publication date

1 June 1998

1 reference

Journal of Clinical Investigation

14 September 2017

1 reference

14 September 2017

101

1 reference

14 September 2017

12

1 reference

14 September 2017

2613-2614

1 reference

Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508850

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508850

Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508850

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508850

The clinical investigator: bewitched, bothered, and bewildered--but still beloved

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508850

The molecular basis of dominance.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508850

Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508850

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508850

In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508850

Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9637693

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI3928

1 reference

14 September 2017

1 reference

PMC publication ID

508850

14 September 2017

PubMed publication ID

9637693

1 reference

PMC publication ID

508850