Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long‐term outcome

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Pediatrics International

• Publication date

  2011-12-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/j.1442-200X.2011.03427.xPMID 21752152
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2000cited by this paper
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  1998cited by this paper
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  1994cited by this paper
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  1992cited by this paper
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  1968cited by this paper

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  2017cites this paper
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  2014cites this paper
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