(Q41251171)

28 September 2017

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity (English)

1 reference

28 September 2017

L R Desviat

1

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28 September 2017

B Pérez

series ordinal

2

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28 September 2017

M Ugarte

series ordinal

3

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28 September 2017

language of work or name

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1 January 1996

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Journal of Inherited Metabolic Disease

28 September 2017

1 reference

28 September 2017

19

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28 September 2017

227-230

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28 September 2017

2

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https://scigraph.springernature.com/pub.10.1007/bf01799436

28 September 2017

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cites work

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

1 reference

12 December 2020

Phenotype distribution in the Spanish phenylketonuria population and related genotypes

1 reference

12 December 2020

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia

1 reference

12 December 2020

Molecular basis for nonphenylketonuria hyperphenylalaninemia

1 reference

12 December 2020

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

1 reference

12 December 2020

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

1 reference

12 December 2020

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria

1 reference

12 December 2020

Phenylketonuria in Spain: RFLP haplotypes and linked mutations

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799436

1 reference

Dimensions Publication ID

28 September 2017

1020945768

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Fatcat ID

release_db3qdhgmejhuncjkjsf76sz2gq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/db3qdhgmejhuncjkjsf76sz2gq

24 November 2022

mapped directly with Wikidata item

1 reference