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Orphanet Journal of Rare Diseases|December 1, 2014
Overcoming the barriers to diagnosis of Morquio A syndromeKaustuv Bhattacharya, Shanti Balasubramaniam, Yew Sing Choy, et al.Molecular Genetics and Metabolism|April 21, 2015
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)Yew Sing Choy, Kaustuv Bhattacharya, Shanti Balasubramaniam, et al.American Journal of Human Genetics|November 12, 2013
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosisAkiharu Kubo, Aiko Shiohama, Takashi Sasaki, et al.Journal of Human Genetics|October 29, 2010
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomaliesShin Hayashi, Issei Imoto, Yoshinori Aizu, et al.Biochemistry and Biophysics Reports|April 13, 2026
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidosesWataru Oboshi, Asami Hirakiyama, Masahiro Miura, et al.Orphanet Journal of Rare Diseases|June 15, 2019
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.Orphanet Journal of Rare Diseases|May 31, 2019
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidanceMehmet Umut Akyol, Tord D Alden, Hernan Amartino, et al.Pageof 12