(Q63681750)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

1 reference

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Chike Bellarmine Item

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Ivana Mihalek

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Oliver Lichtarge

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Anil Jalan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Adolf Muhl

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Olaf A Bodamer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

publication date

7 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

31 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

page(s)

379-383

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

4-Hydroxyphenylpyruvate dioxygenase

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Long-term follow up of a new case of hawkinsinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Structural basis for herbicidal inhibitor selectivity revealed by comparison of crystal structures of plant and mammalian 4-hydroxyphenylpyruvate dioxygenases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

A family of evolution-entropy hybrid methods for ranking protein residues by importance.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Scoring residue conservation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Profile hidden Markov models

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

The Universal Protein Resource (UniProt)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

MUSCLE: multiple sequence alignment with high accuracy and high throughput

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Sequencing and analysis of genes involved in the biosynthesis of a vancomycin group antibiotic

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Disorders of tyrosine catabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Mechanism of action of a flavin-containing monooxygenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

The mechanism of enzymic formation of homogentisate from p-hydroxyphenylpyruvate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

7 January 2021

The Protein Data Bank

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.008

10.1016/J.YMGME.2007.04.008

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17560158%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference