Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Translated title of the contribution: Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
  • J.P. Rake
  • , AM ten Berge
  • , G. Visser
  • , E Verlindt
  • , K.E. Niezen-Koning
  • , C.H.C.M. Buys
  • , G.P.A. Smit
  • , H Scheffer

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contributionGlycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
Original languageUndefined/Unknown
Pages (from-to)322-330
Number of pages9
JournalEuropean Journal of Pediatrics
Volume159
Publication statusPublished - 2000

Keywords

  • Econometric and Statistical Methods: General
  • Geneeskunde (GENK)
  • Genetics
  • Geneeskunde(GENK)
  • Algemeen onderzoek

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