K. Pearlman

V490M, a Common Mutation in 3-Phosphoglycerate Dehydrogenase Deficiency, Causes Enzyme Deficiency by Decreasing the Yield of Mature Enzyme*

K. Swoboda, M. Natowicz, J. Wilkins, 2002, The Journal of Biological Chemistry.

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

W. Gahl, M. Huizing, D. Krasnewich, 2003, American journal of medical genetics. Part A.

Gastrointestinal pneumocystosis in HIV-infected patients on aerosolized pentamidine: report of five cases and literature review.

D. Dieterich, J. Scholes, E. Lew, 1992, The American journal of gastroenterology.