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Tandem mass spectrometry assay of ß-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Wolf, Pavlina; Alcalay, Roy N; Liong, Christopher; Cullen, Emmaline; Pauciulo, Michael W; Nichols, William C; Gan-Or, Ziv; Chung, Wendy K; Faulkner, Tina; Bentis, Christopher; Pomponio, Robert J; Ma, Xiwen; Kate Zhang, X; Keutzer, Joan M; Oliva, Petra.
Affiliation
  • Wolf P; Sanofi, P. O. Box 9322, Framingham, MA 01701, USA.
  • Alcalay RN; Columbia University Medical Center, Neurological Institute, 710 West, 168th street, New York, NY 10032, USA.
  • Liong C; Columbia University Medical Center, Neurological Institute, 710 West, 168th street, New York, NY 10032, USA.
  • Cullen E; Sanofi, P. O. Box 9322, Framingham, MA 01701, USA; Great Ormond Street Hospital for Children, NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
  • Pauciulo MW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Nichols WC; Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Gan-Or Z; Department of Neurology & Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Chung WK; Department of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.
  • Faulkner T; Sanofi, P. O. Box 9322, Framingham, MA 01701, USA.
  • Bentis C; Sanofi, P. O. Box 9322, Framingham, MA 01701, USA.
  • Pomponio RJ; Sanofi, P. O. Box 9322, Framingham, MA 01701, USA.
  • Ma X; Sanofi, P. O. Box 9322, Framingham, MA 01701, USA.
  • Kate Zhang X; Sanofi, P. O. Box 9322, Framingham, MA 01701, USA.
  • Keutzer JM; Sanofi, P. O. Box 9322, Framingham, MA 01701, USA.
  • Oliva P; Sanofi, P. O. Box 9322, Framingham, MA 01701, USA. Electronic address: petra.oliva@sanofi.com.
Mol Genet Metab ; 123(2): 135-139, 2018 02.
Article in En | MEDLINE | ID: mdl-29100779
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Biomarkers / Mass Screening / Tandem Mass Spectrometry / Dried Blood Spot Testing / Fluorescence / Gaucher Disease / Glucosylceramidase Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Humans Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 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: Biomarkers / Mass Screening / Tandem Mass Spectrometry / Dried Blood Spot Testing / Fluorescence / Gaucher Disease / Glucosylceramidase Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Humans Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2018 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos