Author

R Exelbert

Observed institution: National Institutes of Health

OpenAlex ID: A5079413162

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

1995 · C F Boerkoel, R Exelbert, et al. · Europe PMC (PubMed Central) · 133

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

1995 · N Raben, R Exelbert, et al. · Europe PMC (PubMed Central) · 61

Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

1996 · R C Nichols, O Rudolphi, et al. · PubMed Central · 21

Works count: 3

Citation count: 215

H-index: 3

I10-index: 3