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Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder.
Ishiwari, Kouhei; Kotani, Masaharu; Suzuki, Minoru; Pumbo, Elena; Suzuki, Akemi; Kobayashi, Toshihide; Ueno, Tamaki; Fukushige, Tomoko; Kanzaki, Tamotsu; Imada, Masato; Itoh, Kohji; Akioka, Shinji; Tajima, Youichi; Sakuraba, Hitoshi.
Afiliação
  • Ishiwari K; Department of Pediatrics, Ayabe Municipal Hospital, Ayabe, Japan.
  • Kotani M; Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113-8613, Japan.
  • Suzuki M; Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
  • Pumbo E; Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
  • Suzuki A; Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
  • Kobayashi T; Supra-Biomolecular Research System, RIKEN Frontier Research System, RIKEN, Wako, Japan.
  • Ueno T; Department of Pediatrics, Ayabe Municipal Hospital, Ayabe, Japan.
  • Fukushige T; Department of Dermatology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Kanzaki T; Department of Dermatology, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Imada M; Department of Anatomy, Nihon University School of Medicine, Tokyo, Japan.
  • Itoh K; Division of Medicinal Biotechnology, Institute of Medical Resources, Faculty of Pharmaceutical Sciences, The University of Tokushima, Tokushima, Japan.
  • Akioka S; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
  • Tajima Y; Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113-8613, Japan.
  • Sakuraba H; Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113-8613, Japan. sakuraba@rinshoken.or.jp.
J Hum Genet ; 49(12): 656-663, 2004.
Article em En | MEDLINE | ID: mdl-15635485
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ácido N-Acetilneuramínico / Doença do Armazenamento de Ácido Siálico / Células Endoteliais / Nefropatias / Túbulos Renais / Lisossomos Idioma: En Ano de publicação: 2004 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ácido N-Acetilneuramínico / Doença do Armazenamento de Ácido Siálico / Células Endoteliais / Nefropatias / Túbulos Renais / Lisossomos Idioma: En Ano de publicação: 2004 Tipo de documento: Article