(Q34001615)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

author name string

Rosienne Farrugia

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Simon Attard Montalto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Raymond Parascandolo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Brian G R Neville

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Alex E Felice

6

1 reference

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23 December 2019

publication date

22 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

23 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

page(s)

277-283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17188538%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

23 December 2019

cites work

1 reference

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Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

7 January 2021

1 reference

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Tetrahydrobiopterin biosynthesis, regeneration and functions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.013

The hyperphenylalaninemias of man and mouse

7 January 2021

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

7 January 2021

1 reference

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Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.013

Human genetics: lessons from Quebec populations

7 January 2021

1 reference

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Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.10.013

Genotype-phenotype correlation in dihydropteridine reductase deficiency

7 January 2021

1 reference

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Prediction of the occurrence of the ADP-binding beta alpha beta-fold in proteins, using an amino acid sequence fingerprint

7 January 2021

1 reference

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Comparative in vivo expression of beta(+)-thalassemia alleles.

7 January 2021

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Prediction of human mRNA donor and acceptor sites from the DNA sequence.

7 January 2021

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The Protein Data Bank and the challenge of structural genomics

7 January 2021

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Effects of alpha-thalassemia-2 on the developmental changes of hematological values in children with sickle cell disease from Georgia.

7 January 2021

1 reference

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Organization of alpha-chain genes among Hb G-Philadelphia heterozygotes in association with Hb S, beta-thalassemia, and alpha-thalassemia-2

7 January 2021

1 reference

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Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreat

7 January 2021

1 reference

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Beyond Mendel: an evolving view of human genetic disease transmission

7 January 2021

1 reference

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