| LIAO, Hsuan-Chieh, Zdeněk SPÁČIL, Farideh GHOMASHCHI, Maria L. ESCOLAR, Joanne KURTZBERG, Joseph J. ORSINI, Frantisek TURECEK, C. Ronald SCOTT a Michael H. GELB. Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. Clinical Chemistry. Washington, USA: AMER ASSOC CLINICAL CHEMISTRY, 2017, roč. 63, č. 8, s. 1363-1369. ISSN 0009-9147. Dostupné z: https://dx.doi.org/10.1373/clinchem.2016.264952. |
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@article{1391003,
author = {Liao, HsuanandChieh and Spáčil, Zdeněk and Ghomashchi, Farideh and Escolar, Maria L. and Kurtzberg, Joanne and Orsini, Joseph J. and Turecek, Frantisek and Scott, C. Ronald and Gelb, Michael H.},
article_location = {Washington, USA},
article_number = {8},
doi = {http://dx.doi.org/10.1373/clinchem.2016.264952},
keywords = {UMBILICAL-CORD BLOOD; NEW-YORK-STATE; TRANSPLANTATION; SPOTS},
language = {eng},
issn = {0009-9147},
journal = {Clinical Chemistry},
title = {Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease},
url = {http://clinchem.aaccjnls.org/content/63/8/1363},
volume = {63},
year = {2017}
}
TY - JOUR
ID - 1391003
AU - Liao, Hsuan-Chieh - Spáčil, Zdeněk - Ghomashchi, Farideh - Escolar, Maria L. - Kurtzberg, Joanne - Orsini, Joseph J. - Turecek, Frantisek - Scott, C. Ronald - Gelb, Michael H.
PY - 2017
TI - Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease
JF - Clinical Chemistry
VL - 63
IS - 8
SP - 1363-1369
EP - 1363-1369
PB - AMER ASSOC CLINICAL CHEMISTRY
SN - 00099147
KW - UMBILICAL-CORD BLOOD
KW - NEW-YORK-STATE
KW - TRANSPLANTATION
KW - SPOTS
UR - http://clinchem.aaccjnls.org/content/63/8/1363
L2 - http://clinchem.aaccjnls.org/content/63/8/1363
N2 - BACKGROUND: 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. METHODS: T lymphocytes were isolated from venous blood by magnetic bead technology. The assay used a close structural analog of the natural substrate and LC-MS/MS to quantify the amount of product with the aid of a chemically identical internal standard. RESULTS: The analytical range of the assay (ratio of assay response for the QC high standard to that from all non-enzymatic-dependent processes) was 20-fold greater than that for the conventional radiometric GALC assay. The LC-MS/MS could distinguish cells that were null in GALC from those that contained traces of active enzyme (down to 0.3% of normal). There was a good correlation between the level of residual GALC activity in lymphocytes and the severity of Krabbe disease. CONCLUSIONS: The new assay can measure small amounts of residual GALC activity in leukocytes with high accuracy compared to previous assays and can contribute, along with genotyping, biomarker analysis, and neurological imaging, a better plan for post-newborn screening follow-up for Krabbe disease.
ER -
LIAO, Hsuan-Chieh, Zdeněk SPÁČIL, Farideh GHOMASHCHI, Maria L. ESCOLAR, Joanne KURTZBERG, Joseph J. ORSINI, Frantisek TURECEK, C. Ronald SCOTT a Michael H. GELB. Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. \textit{Clinical Chemistry}. Washington, USA: AMER ASSOC CLINICAL CHEMISTRY, 2017, roč.~63, č.~8, s.~1363-1369. ISSN~0009-9147. Dostupné z: https://dx.doi.org/10.1373/clinchem.2016.264952.
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