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A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.
Rodriguez-Gil, Jorge L; Larson, Denise M; Wassif, Christopher A; Yanjanin, Nicole M; Anderson, Stacie M; Kirby, Martha R; Trivedi, Niraj S; Porter, Forbes D; Pavan, William J.
Affiliation
  • Rodriguez-Gil JL; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Mol Genet Metab ; 110(1-2): 188-90, 2013.
Article in En | MEDLINE | ID: mdl-23850077
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Glycoproteins / Lysosomal Storage Diseases / Niemann-Pick Disease, Type C / Lysosomes Type of study: Diagnostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2013 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Glycoproteins / Lysosomal Storage Diseases / Niemann-Pick Disease, Type C / Lysosomes Type of study: Diagnostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2013 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos