Molecular basis for nonphenylketonuria hyperphenylalaninemia (Q67522978)

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14 September 2019

title

Molecular basis for nonphenylketonuria hyperphenylalaninemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358789%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

main subject

hyperphenylalaninemia

1 reference

E. Economou-Petersen

1

1 reference

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18 September 2022

K. F. Henriksen

series ordinal

2

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18 September 2022

P. Guldberg

series ordinal

3

1 reference

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18 September 2022

F. Güttler

series ordinal

4

1 reference

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18 September 2022

publication date

1 September 1992

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14 September 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1358789

18 September 2022

1 reference

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14 September 2019

volume

14

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14 September 2019

issue

1

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14 September 2019

page(s)

1-5

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Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

14 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Transient hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Serum tyrosine within the first hour after an oral load of phenylalanine

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Phenylalanine has no effect on dihydropteridine reductase activity in phenylketonuria fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Effects of oral phenylalanine load on plasma glucagon, insulin, amino acid and glucose concentrations in man

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Persistent hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

On indications for treatment of the hyperphenylalaninemic neonate

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Persistent mild hyperphenylalaninemia in the untreated state. A prospective study

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

Atypical phenylketonuria in sisters with normal offspring

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2805%2980274-5

7 January 2021

10.1016/S0888-7543(05)80274-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358789%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

1 reference