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Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.
Ferreira, C R; Goorden, S M I; Soldatos, A; Byers, H M; Ghauharali-van der Vlugt, J M M; Beers-Stet, F S; Groden, C; van Karnebeek, C D; Gahl, W A; Vaz, F M; Jiang, X; Vernon, H J.
Affiliation
  • Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.
  • Goorden SMI; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Soldatos A; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Byers HM; Division of Medical Genetics, Stanford University, Palo Alto, CA, USA.
  • Ghauharali-van der Vlugt JMM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Beers-Stet FS; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Groden C; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • van Karnebeek CD; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
  • Gahl WA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Vaz FM; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Jiang X; Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Vernon HJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: Hvernon1@jhmi.edu.
Mol Genet Metab ; 124(3): 204-209, 2018 07.
Article in En | MEDLINE | ID: mdl-29789193
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Serine / Sphingolipids / Mitochondrial Diseases / Amino Acid Metabolism, Inborn Errors Type of study: Observational_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 Document type: Article Affiliation country: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Serine / Sphingolipids / Mitochondrial Diseases / Amino Acid Metabolism, Inborn Errors Type of study: Observational_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 Document type: Article Affiliation country: Estados Unidos