(Q64004919)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830172%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population (English)

1 reference

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19 October 2019

1 reference

1

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19 October 2019

Giacomo Biasucci

9

1 reference

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19 October 2019

Francesco Cali

12

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19 October 2019

Guido Anello

14

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19 October 2019

author name string

P Guldberg

2

1 reference

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19 October 2019

F Güttler

3

1 reference

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19 October 2019

C Meli

4

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19 October 2019

F Mollica

5

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19 October 2019

L Pavone

6

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19 October 2019

M Giovannini

7

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19 October 2019

E Riva

8

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19 October 2019

D Luotti

10

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19 October 2019

L Palillo

11

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19 October 2019

N Ceratto

13

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19 October 2019

P Bosco

15

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19 October 2019

publication date

1 January 1996

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Journal of Inherited Metabolic Disease

19 October 2019

published in

1 reference

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19 October 2019

volume

19

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19 October 2019

page(s)

15-24

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19 October 2019

issue

1

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https://scigraph.springernature.com/pub.10.1007/bf01799343

19 October 2019

exact match

0 references

cites work

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis

1 reference

12 December 2020

The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993.

1 reference

12 December 2020

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

1 reference

12 December 2020

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria

1 reference

12 December 2020

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations

1 reference

12 December 2020

Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation

1 reference

12 December 2020

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

1 reference

12 December 2020

Molecular basis for nonphenylketonuria hyperphenylalaninemia

1 reference

12 December 2020

Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening

1 reference

12 December 2020

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

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

Comparison of genotype and intellectual phenotype in untreated PKU patients

1 reference

12 December 2020

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

1 reference

12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

1 reference

12 December 2020

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799343

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8830172%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 October 2019

0 references

1 reference