• A mass spectrometric strategy for profiling glycoproteinoses, Pompe disease, and sialic acid storage diseases
• Description of a new type of melituria, called sialuria
• Description of a new type of melituria: sialuria
• Dominant inheritance of sialuria, an inborn error of feedback inhibition
• Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts
• Genetic disorders of N-acetylneuraminic acid metabolism: sialurias and sialidoses
• Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review
• Primary neuraminidase deficiency with prenatal disclosure