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Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Cawley, Niamh X; Giddens, Spencer; Farhat, Nicole M; Luke, Rachel A; Scott, Katelin E J; Mohamed, Hibaaq O; Dang Do, An; Berry-Kravis, Elizabeth; Cologna, Stephanie M; Liu, Fang; Porter, Forbes D.
Afiliación
  • Cawley NX; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Giddens S; Applied and Computational Mathematics and Statistics, University of Notre Dame, South Bend, IN, USA.
  • Farhat NM; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Luke RA; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Scott KEJ; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Mohamed HO; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Dang Do A; Unit on Cellular Stress in Development and Diseases, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Berry-Kravis E; Rush University Medical Center, Chicago, IL, USA.
  • Cologna SM; Department of Chemistry and Laboratory of Integrative Neuroscience, University of Illinois Chicago, Chicago, IL, USA.
  • Liu F; Applied and Computational Mathematics and Statistics, University of Notre Dame, South Bend, IN, USA.
  • Porter FD; Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address: fdporter@mail.nih.gov.
Mol Genet Metab ; 140(3): 107656, 2023 11.
Article en En | MEDLINE | ID: mdl-37517328
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Niemann-Pick Tipo C Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos