N. Sakai

Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization.

K. Ozono, L. Fu, K. Inui, 1998, Biochimica et biophysica acta.

Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease.

H. Furuya, Y. Kukita, T. Kobayashi, 1997, Genetic testing.

Enzyme replacement therapy in Japanese Fabry disease patients: The results of a phase 2 bridging study

Y. Eto, A. Mizuno, S. Mochizuki, 2005, Journal of Inherited Metabolic Disease.

Genomic Organization of the Human Chondromodulin‐1 Gene Containing a Promoter Region That Confers the Expression of Reporter Gene in Chondrogenic ATDC5 Cells

H. Kurahashi, K. Ozono, T. Michigami, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.

A. Iwamatsu, N. Fujii, Y. Isegawa, 1994, Biochemical and biophysical research communications.

A high alpha-linolenate diet suppresses antigen-induced immunoglobulin E response and anaphylactic shock in mice.

H. Okuyama, S. Watanabe, T. Mizutani, 1994, The Journal of nutrition.

Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease

K. Inui, T. Nishigaki, H. Tsukamoto, 2002, Journal of Inherited Metabolic Disease.

Purification and characterization of galactocerebrosidase from human lymphocytes.

A. Iwamatsu, Y. Okuno, K. Inui, 1994, Journal of biochemistry.

Case of ring chromosome 7: the first report of neuropathological findings.

M. Taniike, K. Inui, H. Tsukamoto, 1993, American journal of medical genetics.

Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.

K. Ozono, T. Michigami, M. Nakayama, 1996, The Journal of clinical endocrinology and metabolism.

Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts

M. Yutsudo, K. Ozono, M. Wataya-Kaneda, 2010, The British journal of dermatology.