Implementation of newborn screening for Krabbe disease: Population study and cutoff determination

Author:

Orsini Joseph J.,Morrissey Mark A.,Slavin Laura N.,Wojcik Matthew,Biski Chad,Martin Monica,Keutzer Joan,Zhang X. Kate,Chuang Wei-Lien,Elbin Carole,Caggana Michele

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference16 articles.

1. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening;Li;Clin. Chem.,2004

2. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry;Zhang;Clin. Chem.,2008

3. Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease);Wenger,2001

4. Krabbe disease: genetic aspects and progress toward therapy;Wenger;Molec. Genet. Metab.,2000

5. Screening for lysosomal storage disorders in: Techniques in diagnostic human biochemical genetics: a laboratory manual;Wenger,1991

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