Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction

Author:

Kobayashi Hiroshi,Takahashi-Fujigasaki Junko,Fukuda Takahiro,Sakurai Ken,Shimada Yohta,Nomura Koichi,Ariga Masamichi,Ohashi Toya,Eto Yoshikatsu,Otomo Takanobu,Sakai Norio,Ida Hiroyuki

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference21 articles.

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3. The alpha-and beta- subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase are encoded by a single cDNA;Kudo;J. Biol. Chem.,2005

4. Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC);Raas-Rothschild;J. Clin. Invest.,2000

5. Comparative pathology of murine mucolipidosis types II and IIIC;Vogel;Vet. Pathol.,2009

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