(Q41902886)

13 October 2017

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France (English)

1 reference

13 October 2017

4

1 reference

13 October 2017

10

Munnich A

1 reference

13 October 2017

Rey F

1

1 reference

13 October 2017

Berthelon M

2

1 reference

13 October 2017

Caillaud C

3

1 reference

13 October 2017

Abadie V

5

1 reference

13 October 2017

Blandin-Savoja F

6

1 reference

13 October 2017

Feingold J

7

1 reference

13 October 2017

Saudubray JM

8

1 reference

13 October 2017

Frézal J

9

1 reference

13 October 2017

language of work or name

English

0 references

publication date

1 December 1988

1 reference

American Journal of Human Genetics

13 October 2017

1 reference

13 October 2017

43

1 reference

13 October 2017

914-921

1 reference

13 October 2017

6

1 reference

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Compound heterozygotes in hyperphenylalaninaemia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Guthrie cards for detection of point mutations in phenylketonuria

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Molecular basis of phenylketonuria and potential somatic gene therapy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Experience with new DNA markers for the diagnosis of cystic fibrosis

18 August 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

3 November 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

[Classification and heterogeneity of hyperphenylalaninemias linked to a phenylalanine hydroxylase deficiency]

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715615

Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria

3 November 2018

1 reference

12 December 2020

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders

1 reference

12 December 2020

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

12 December 2020

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

1 reference

12 December 2020

Identifiers

1 reference

13 October 2017

1 reference