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J-GLOBAL ID:201202205542678060   Reference number:12A1254542

Hypoyelination in I-cell disease; MRI, MR spectroscopy and neuropathological correlation

I細胞病でのミエリン形成減少;MRIとMRスペクトロスコピーと神経病理学的相関
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Material:
Volume: 34  Issue:Page: 780-783  Publication year: Oct. 2012 
JST Material Number: W0814A  ISSN: 0387-7604  Document type: Article
Article type: 短報  Country of issue: Netherlands (NLD)  Language: ENGLISH (EN)
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Nervous system diseases  ,  Metabolic diseases,nutritional diseases in general. 
Reference (16):
  • Kornfeld S, Sly WS. I-Cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic & molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 3469-82, 8th ed..
  • Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, et al. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet 2009;54:145-51.
  • Martin JJ, Leroy JG, Farriaux JP, Fontaine G, Desnick RJ, Cabello A. I-Cell disease (mucolipidosis II): a report on its pathology. Acta Neuropathol 1975;33:285-305.
  • Nagashima K, Sakakibara K, Endo H, Konishi Y, Nakamura N, Suzuki Y, et al. I-Cell disease (mucolipidosis II) pathological and biochemical studies of an autopsy case. Acta Path Jap 1977;27:251-64.
  • Martin JJ, Leory JG, van Eygen M, Ceuterick C. I-Cell disease. A further report on its pathology. Acta Neuropathol 1984;64:234-42.
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