Simplified Newborn Screening Protocol for Lysosomal Storage Disorders
- Author
- METZ, Thomas F1 2 ; MECHTLER, Thomas P1 2 ; KASPER, David C1 2 ; ORSINI, Joseph J3 ; MARTIN, Monica3 ; SHUSHAN, Bori4 ; HERMAN, Joseph L5 ; RATSCHMANN, Rene1 ; ITEM, Chike B1 2 ; STREUBEL, Berthold6 ; HERKNER, Kurt R1 2
[1] Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
[2] Research Core Unit of Pediatric Biochemistry and Analytics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
[3] Biggs Laboratory, Wadsworth Center, New York State Department of Health, Albany, NY, United States
[4] Clinical Mass Spec Consultants, Toronto, ON, Canada
[5] Thermo Fisher Scientific, 101 Constitution Boulevard, Franklin MA, United States
[6] Department of Pathology, Medical University of Vienna, Vienna, Austria - Source
Clinical chemistry (Baltimore, Md.). 2011, Vol 57, Num 9, pp 1286-1294, 9 p ; ref : 31 ref
- CODEN
- CLCHAU
- ISSN
- 0009-9147
- Scientific domain
- Biochemistry, molecular biology, biophysics; Medical laboratory techniques; General medicine general surgery
- Publisher
- American Association for Clinical Chemistry, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Biochimie Biologie clinique Biologie moléculaire Dépistage Nouveau né Pathologie des lysosomes Homme
- Keyword (en)
- Biochemistry Clinical biology Molecular biology Medical screening Newborn Lysosomal storage disease Human
- Keyword (es)
- Bioquímica Biología clínica Biología molecular Descubrimiento Recién nacido Lisosoma patología Hombre
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A02 Analytical, structural and metabolic biochemistry
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A03 Molecular biophysics
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B24 Investigative techniques, diagnostic techniques (general aspects)
- Discipline
- Analytical, structural and metabolic biochemistry Molecular biophysics Scanning and diagnostic techniques
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24505104
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1373/clinchem.2011.164640 
https://dx.doi.org/10.1373/clinchem.2011.164640
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