(Q33800094)

29 July 2017

0 references

Tyrosinemia type III in an asymptomatic girl (English)

1 reference

29 July 2017

1 reference

Edyta Szymanska

1

0 references

Dariusz Rokicki

Dariusz Rokicki

Dorota Piekutowska-Abramczuk

6

0 references

Dorota Piekutowska-Abramczuk

4

0 references

Anna Tylki-Szymańska

Anna Tylki-Szymanska

7

0 references

Elżbieta Ciara

3

Elzbieta Ciara

1 reference

29 July 2017

0 references

Malgorzata Sredzinska

2

1 reference

29 July 2017

22 October 2015

1 reference

Molecular Genetics and Metabolism Reports

29 July 2017

1 reference

29 July 2017

5

1 reference

29 July 2017

48-50

1 reference

Recommendations for the management of tyrosinaemia type 1

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

28 July 2018

The genetic tyrosinemias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

28 July 2018

Tyrosinemia: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

On the renal tubular damage in hereditary tyrosinemia and on the formation of succinylacetoacetate and succinylacetone

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

Tyrosine impairs enzymes of energy metabolism in cerebral cortex of rats.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

Increased nitric oxide release by neutrophils of a patient with tyrosinemia type III.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

4-Hydroxyphenylpyruvate dioxygenase

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

Outcome of tyrosinaemia type III.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

Tyrosinemia type III: diagnosis and ten-year follow-up.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

Tyrosinemia Type III detected via neonatal screening: Management and outcome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5471395

10.1016/J.YMGMR.2015.10.004

30 October 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference

29 July 2017

1 reference

PubMed ID

28649543