Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.Cornelius F. Boerkoel, Nina Raben, Frederick W. Miller et al.|PubMed|1995Cited by 133
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.Nina Raben, Jürgen J. Heinisch, Hideaki Nakajima et al.|PubMed|1995Cited by 60
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.Ralph C. Nichols, Nina Raben, Olle Rudolphi et al.|PubMed|1996Cited by 22