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19q13.12 microdeletion syndrome fibroblasts display abnormal storage of cholesterol and sphingolipids in the endo-lysosomal system.
Zhao, Kexin; van der Spoel, Aarnoud; Castiglioni, Claudia; Gale, Sarah; Fujiwara, Hideji; Ory, Daniel S; Ridgway, Neale D.
Affiliation
  • Zhao K; Atlantic Research Center, Depts. of Pediatrics and Biochemistry & Molecular Biology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • van der Spoel A; Atlantic Research Center, Depts. of Pediatrics and Biochemistry & Molecular Biology, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Castiglioni C; Programa de Enfermedades Neuromusculares y Trastornos Motores, Departamento de Neurología Pediátrica, Clínica Las Condes, Santiago, Chile.
  • Gale S; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO, USA.
  • Fujiwara H; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO, USA.
  • Ory DS; Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO, USA.
  • Ridgway ND; Atlantic Research Center, Depts. of Pediatrics and Biochemistry & Molecular Biology, Dalhousie University, Halifax, Nova Scotia, Canada. Electronic address: nridgway@dal.ca.
Biochim Biophys Acta Mol Basis Dis ; 1864(6 Pt A): 2108-2118, 2018 06.
Article in En | MEDLINE | ID: mdl-29580926
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 19 / Chromosome Deletion / Lysosomal Storage Diseases / Rare Diseases / Fibroblasts Type of study: Diagnostic_studies Limits: Child / Humans / Male Language: En Journal: Biochim Biophys Acta Mol Basis Dis Year: 2018 Document type: Article Affiliation country: Canadá Country of publication: Países Bajos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 19 / Chromosome Deletion / Lysosomal Storage Diseases / Rare Diseases / Fibroblasts Type of study: Diagnostic_studies Limits: Child / Humans / Male Language: En Journal: Biochim Biophys Acta Mol Basis Dis Year: 2018 Document type: Article Affiliation country: Canadá Country of publication: Países Bajos