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Psychosine, a marker of Krabbe phenotype and treatment effect.
Escolar, M L; Kiely, B T; Shawgo, E; Hong, X; Gelb, M H; Orsini, J J; Matern, D; Poe, M D.
Affiliation
  • Escolar ML; Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA. Electronic address: maria.escolar@chp.edu.
  • Kiely BT; Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
  • Shawgo E; Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
  • Hong X; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA.
  • Gelb MH; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA 98195, USA.
  • Orsini JJ; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12201, USA.
  • Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Poe MD; Program for the Study of Neurodevelopment in Rare Disorders, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
Mol Genet Metab ; 121(3): 271-278, 2017 07.
Article in En | MEDLINE | ID: mdl-28579020
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Full text: 1 Database: MEDLINE Main subject: Psychosine / Biomarkers / Leukodystrophy, Globoid Cell Type of study: Guideline / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Humans / Infant / Newborn Language: En Year: 2017 Type: Article
Fulltext
Print
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PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Psychosine / Biomarkers / Leukodystrophy, Globoid Cell Type of study: Guideline / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Humans / Infant / Newborn Language: En Year: 2017 Type: Article