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Creatine transporter deficiency: Novel mutations and functional studies.
Ardon, O; Procter, M; Mao, R; Longo, N; Landau, Y E; Shilon-Hadass, A; Gabis, L V; Hoffmann, C; Tzadok, M; Heimer, G; Sada, S; Ben-Zeev, B; Anikster, Y.
Affiliation
  • Ardon O; Research and Development, ARUP Laboratories, Salt Lake City, UT, USA; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Procter M; Research and Development, ARUP Laboratories, Salt Lake City, UT, USA.
  • Mao R; Research and Development, ARUP Laboratories, Salt Lake City, UT, USA; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Longo N; Research and Development, ARUP Laboratories, Salt Lake City, UT, USA; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Landau YE; Edmond and Lily Safra Children's hospital and Sackler Faculty of Medicine, TAU, Sheba Medical Center, Israel.
  • Shilon-Hadass A; Edmond and Lily Safra Children's hospital and Sackler Faculty of Medicine, TAU, Sheba Medical Center, Israel.
  • Gabis LV; Edmond and Lily Safra Children's hospital and Sackler Faculty of Medicine, TAU, Sheba Medical Center, Israel.
  • Hoffmann C; Edmond and Lily Safra Children's hospital and Sackler Faculty of Medicine, TAU, Sheba Medical Center, Israel.
  • Tzadok M; Edmond and Lily Safra Children's hospital and Sackler Faculty of Medicine, TAU, Sheba Medical Center, Israel.
  • Heimer G; Edmond and Lily Safra Children's hospital and Sackler Faculty of Medicine, TAU, Sheba Medical Center, Israel; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital and The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Sada S; Department of Pathology, University of Utah, Salt Lake City, UT, USA; Edmond and Lily Safra Children's hospital and Sackler Faculty of Medicine, TAU, Sheba Medical Center, Israel.
  • Ben-Zeev B; Edmond and Lily Safra Children's hospital and Sackler Faculty of Medicine, TAU, Sheba Medical Center, Israel.
  • Anikster Y; Edmond and Lily Safra Children's hospital and Sackler Faculty of Medicine, TAU, Sheba Medical Center, Israel.
Mol Genet Metab Rep ; 8: 20-3, 2016 Sep.
Article in En | MEDLINE | ID: mdl-27408820
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2016 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2016 Type: Article Affiliation country: United States