(Q35202752)

7 August 2017

Phenylketonuria heterozygote detection in families with affected children (English)

1 reference

7 August 2017

1 reference

T. D. Paul

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

20 July 2022

I. K. Brandt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

20 July 2022

L. J. Elsas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

20 July 2022

C. E. Jackson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

20 July 2022

P. Mamunes

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

20 July 2022

C. S. Nance

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

20 July 2022

W. E. Nance

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

20 July 2022

language of work or name

English

0 references

publication date

1 May 1978

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/677126/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/677126/?tool=EBI

20 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

https://europepmc.org/articles/PMC1685587

20 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

https://europepmc.org/articles/PMC1685587?pdf=render

20 July 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A677126

American Journal of Human Genetics

20 July 2022

published in

1 reference

7 August 2017

30

1 reference

7 August 2017

293-301

1 reference

7 August 2017

3

1 reference

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

The detection in the heterozygote of the metabolic effect of the recessive gene for phenylketonuria.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Reduction of plasma tyrosine by oral contraceptives and oestrogens: A possible consequence of tyrosine aminotransferase induction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Technical pitfalls leading to errors in the quantitation of plasma amino acids.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

The use of biochemical data in screening for mutant alleles and in genetic counselling

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Classic phenylketonuria: heterozygote detection during pregnancy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Impairment of phenylalanine hydroxylation in chronic renal insufficiency.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Effects of oral contraceptives and obesity on carrier tests for phenylketonuria.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Excretion of tryptophan metabolites as affected by pregnancy, contraceptive steroids, and steroid hormones

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

The phenylalanine hydroxylating system from mammalian liver

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Classic phenylketonuria: Diagnosis through heterozygote detection

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Diet and uptake of aldomet by the brain: competition with natural large neutral amino acids

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

The influence of high phenylalanine and tyrosine on the concentrations of essential amino acids in brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685587

Ion exchange chromatography of amino acids--microdetermination of free amino acids in serum

26 September 2018

1 reference

12 December 2020

Phenylketonuria: the phenylalanine-tyrosine ratio in the detection of the heterozygous carrier

1 reference

12 December 2020

Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria

1 reference

12 December 2020

Measurement of pleiotropic effects in phenylketonuria

1 reference

12 December 2020

L-tryptophan metabolism in phenylketonuria

1 reference

12 December 2020

Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria

1 reference

12 December 2020

Detection of phenylketonuric heterozygotes

1 reference

12 December 2020

Nutritional Management in Phenylketonuria

1 reference

12 December 2020

Problems in the biochemical detection of heterozygotes for phenylketonuria

1 reference

12 December 2020

Phenylalanine loading and aromatic acid excretion in normal subjects and heterozygotes for phenylketonuria

1 reference

12 December 2020

Determination of heterozygosity for phenylketonuria on the amino acid analyzer

1 reference

12 December 2020

Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

1 reference

12 December 2020

Oral contraceptives, depression, and aminoacid metabolism

1 reference

12 December 2020

Identifiers

PMCID

1685587

1 reference

7 August 2017

1 reference