Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan (Q44416976)

2 December 2017

Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan (English)

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2 December 2017

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https://api.crossref.org/works/10.1016/S0027-5107(03)00015-0

27 December 2023

author name string

Sadeq Vallian

1

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2 December 2017

Elham Barahimi

2

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2 December 2017

Hasan Moeini

3

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2 December 2017

language of work or name

English

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publication date

1 May 2003

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2 December 2017

15 May 2003

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12714182

full work available at URL

27 December 2023

https://api.elsevier.com/content/article/PII:S0027510703000150?httpAccept=text/xml

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https://api.crossref.org/works/10.1016/S0027-5107(03)00015-0

https://api.elsevier.com/content/article/PII:S0027510703000150?httpAccept=text/plain

27 December 2023

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https://api.crossref.org/works/10.1016/S0027-5107(03)00015-0

27 December 2023

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2 December 2017

526

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2 December 2017

45-52

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2 December 2017

1-2

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Phenylketonuria: old disease, new approach to treatment

2 December 2017

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Neonatal neurological assessment of offspring in maternal phenylketonuria.

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Neurological outcome in adult patients with early-treated phenylketonuria.

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Neurological deterioration in adult phenylketonuria

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Monogenic traits are not simple: lessons from phenylketonuria

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

The promyelocytic leukemia protein interacts with Sp1 and inhibits its transactivation of the epidermal growth factor receptor promoter

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

A simple, rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Incidence of phenylketonuria in Iran estimated from consanguineous marriages

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Molecular characterization of phenylketonuria in Japanese patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

The frequency of PKU and hyperphenylalaninemia in Sweden - a study in institutions for the mentally retarded as well as in neonates

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Phenylketonuria missense mutations in the Mediterranean

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Frequency of the G6PD nt 1311 C/T polymorphism in English and Iranian populations: relevance to studies of X chromosome inactivation

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0027-5107%2803%2900015-0

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene

7 January 2021

17

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https://api.crossref.org/works/10.1016/S0027-5107(03)00015-0

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

27 December 2023

23

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https://api.crossref.org/works/10.1016/S0027-5107(03)00015-0

27 December 2023

Identifiers

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2 December 2017

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