(Q57380538)

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Tyrosinemia Type III detected via neonatal screening: Management and outcome

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Tyrosinemia Type III detected via neonatal screening: Management and outcome (English)

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Evelyne Heylen

1

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Gerd Scherer

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2

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Marie-Françoise Vincent

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3

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Sandrine Marie

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4

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Judith Fischer

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5

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Marie-Cécile Nassogne

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6

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publication date

November 2012

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published in

Molecular Genetics and Metabolism

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volume

107

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issue

3

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page(s)

605-607

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cites work

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.002

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7 January 2021

The genetic tyrosinemias

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.002

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.002

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7 January 2021

Outcome of tyrosinaemia type III.

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.002

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7 January 2021

Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.002

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.002

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7 January 2021

Tyrosine inhibits creatine kinase activity in cerebral cortex of young rats.

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.002

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7 January 2021

Newborn screening for Tyr-I: two years' experience of the New York State program

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reference URL

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.002

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7 January 2021

Identifiers

DOI

10.1016/J.YMGME.2012.09.002

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PubMed publication ID

23036342

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(Q57380538)

Tyrosinemia Type III detected via neonatal screening: Management and outcome

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