(Q44452894)

3 December 2017

title

Molecular characterization of phenylketonuria in South Brazil (English)

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Maria Luiza Saraiva-Pereira

3 December 2017

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10

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3 December 2017

9

Roberto Giugliani

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3 December 2017

8

Robert J Desnick

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3 December 2017

author name string

Luiz Carlos Santana da Silva

1

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3 December 2017

Tiago Santos Carvalho

2

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3 December 2017

Fernanda Britto da Silva

3

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3 December 2017

Liana Morari

4

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3 December 2017

Angela Aguirres Fachel

5

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3 December 2017

Ricardo Pires

6

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3 December 2017

Lília Farret Refosco

7

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3 December 2017

publication date

1 May 2003

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Molecular Genetics and Metabolism

3 December 2017

published in

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3 December 2017

volume

79

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3 December 2017

issue

1

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3 December 2017

page(s)

17-24

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Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Genotype-phenotype correlations in phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

PAHdb: a locus-specific knowledgebase.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Genetic background of clinical homogeneity of phenylketonuria in Poland

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Characterization of phenylketonuria alleles in the Italian population

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Genotype-phenotype correlation in 11 Romanian PKU families

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Haplotypes and mutations of the PAH locus in Egyptian families with PKU.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Molecular characterization of phenylketonuria in Japanese patients

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

Automated mutation analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900032-5

7 January 2021

10.1016/S1096-7192(03)00032-5

Identifiers

DOI

1 reference

3 December 2017

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