Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia.

No abstract is available for this paper.

• Publication year

  2014

• Venue

  New England Journal of Medicine

• Publication date

  2014-03-19

• Fields of study

  Medicine

• Identifiers
  DOI 10.1056/NEJMoa1310967PMID 24645945
• 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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  2007cited by this paper
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