Robert J. Pomponio

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

Marian A. Kroos, Robert J. Pomponio, M.L.C. Hagemans et al. · Neurology · 2007 · 168 citations

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Marian A. Kroos, Robert J. Pomponio, Laura Van de Vliet et al. · Human Mutation · 2008 · 142 citations · Full text

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

Paul Labrousse, Yin‐Hsiu Chien, Robert J. Pomponio et al. · Molecular Genetics and Metabolism · 2009 · 98 citations

Genetic Testing, Newborn Screening, Mendelian Disorder +13

Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblast.

George L. Mutter, Claudia Stewart, M L Chaponot et al. · PubMed · 1993 · 85 citations

Delayed-onset profound biotinidase deficiency

Barry Wolf, Robert J. Pomponio, Karen J. Norrgard et al. · The Journal of Pediatrics · 1998 · 84 citations

Biochemistry, Heme Homeostasis, Natural Sciences +5