1 to 2 of 2 literature results

• Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

  Proteoglycans are a family of extracellular macromolecules comprised of glycosaminoglycan chains of a repeated disaccharide linked to a central core p…

  Authors: Shuichi Hiraoka, Tatsuya Furuichi, Gen Nishimura, Shunichi Shibata, Masaki Yanagishita, David L Rimoin, Andrea Superti-Furga, Peter G Nikkels, Minako Ogawa, Kayoko Katsuyama,…

  Source: Nature medicine. 2007 Nov

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• Prenatal diagnosis of boomerang dysplasia.

  Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficie…

  Authors: Marja W Wessels, Nicolette S Den Hollander, Ronald R De Krijger, Luisa Bonifé, Andrea Superti-Furga, Peter G Nikkels, Patrick J Willems

  Source: American journal of medical genetics. Part A. 2003 Oct 1

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