Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening

D. Matern, H. Niederhoff, M. Brandis, J. Y. Chou

Research output: Contribution to journalArticle

6 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)205-208
Number of pages4
JournalJournal of Inherited Metabolic Disease
Volume19
Issue number2
DOIs
StatePublished - 1996
Externally publishedYes

Fingerprint

DNA Mutational Analysis
Glycogen Storage Disease Type I
Glycogen Storage Disease
Single-Stranded Conformational Polymorphism
Glucose-6-Phosphatase
Mutation

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

Cite this

Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening. / Matern, D.; Niederhoff, H.; Brandis, M.; Chou, J. Y.

In: Journal of Inherited Metabolic Disease, Vol. 19, No. 2, 1996, p. 205-208.

Research output: Contribution to journalArticle

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