Bonafé, Luisa

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, C. D. M., Bonafé, L., Wen, X.-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., et al. (2016) · Nature Genetics

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

Cited by 164

Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

Simsek Kiper, P. O., Saito, H., Gori, F., Unger, S., Hesse, E., Yamana, K., Kiviranta, R., Solban, N., Liu, J., Brommage, R., et al. (2016) · New England Journal of Medicine

Bone health and osteoporosis researchBone Metabolism and Diseases

Cited by 151

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., et al. (2013) · The American Journal of Human Genetics

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 137