(Q71873006)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7609462%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias (English)

1 reference

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21 October 2019

author name string

F. Güttler

1

1 reference

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15 June 2024

P. Guldberg

2

1 reference

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15 June 2024

K. F. Henriksen

3

1 reference

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15 June 2024

I. Mikkelsen

4

1 reference

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15 June 2024

B. Olsen

5

1 reference

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15 June 2024

H. Lou

6

1 reference

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15 June 2024

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=7609462

15 June 2024

publication date

1 January 1993

1 reference

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full work available at URL

21 October 2019

https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF00711693

1 reference

https://api.crossref.org/works/10.1007/BF00711693

Journal of Inherited Metabolic Disease

15 June 2024

published in

1 reference

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21 October 2019

volume

16

1 reference

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21 October 2019

issue

3

1 reference

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21 October 2019

page(s)

602-604

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00711693

21 October 2019

exact match

0 references

cites work

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

Molecular basis for nonphenylketonuria hyperphenylalaninemia

1 reference

12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

12 December 2020

Molecular genetics of PKU

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

PCR in the diagnosis of phenylketonuria

1 reference

12 December 2020

Carrier screening for cystic fibrosis and other autosomal recessive diseases

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711693

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7609462%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference