Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post–Newborn Screening Evaluation of Krabbe Disease | Zendy

Hsuan-Chieh Liao | Zendy; Zdeněk Spáčil | Zendy; Farideh Ghomashchi | Zendy; Maria L. Escolar | Zendy; Joanne Kurtzberg | Zendy; Joseph J. Orsini | Zendy; František Tureček | Zendy; C. Ronald Scott | Zendy; Michael H. Gelb | Zendy

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Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post–Newborn Screening Evaluation of Krabbe Disease

Author(s) -

Hsuan-Chieh Liao,

Zdeněk Spáčil,

Farideh Ghomashchi,

Maria L. Escolar,

Joanne Kurtzberg,

Joseph J. Orsini,

František Tureček,

C. Ronald Scott,

Michael H. Gelb

Publication year - 2017

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2016.264952

Subject(s) - krabbe disease , lymphocyte , newborn screening , immunology , disease , chromatography , medicine , chemistry , biochemistry , pathology , leukodystrophy

Deficiency of the lysosomal enzyme galactosylcerebrosidase (GALC) causes Krabbe disease. Newborn screening for Krabbe disease is ongoing, but improved methods for follow-up analysis of screen-positive babies are needed to better advise families and to optimize treatment. We report a new assay for the enzymatic activity of GALC in lymphocytes.

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