Multiple phenotypes in phosphoglucomutase 1 deficiency
N Engl J Med
.
2014 May 22;370(21):2051-2.
doi: 10.1056/NEJMc1403446.
Authors
Thorsten Marquardt
,
Eva Morava
,
Stephan Rust
PMID:
24849093
DOI:
10.1056/NEJMc1403446
No abstract available
Publication types
Letter
Comment
MeSH terms
Glucosephosphates / genetics*
Glycogen Storage Disease / genetics*
Humans
Male
Phenotype*
Phosphoglucomutase / genetics*
Substances
Glucosephosphates
Phosphoglucomutase