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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Základní údaje
Originální název Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease
Autoři LIAO, Hsuan-Chieh (158 Tchaj-wan), Zdeněk SPÁČIL (203 Česká republika, garant, domácí), Farideh GHOMASHCHI (840 Spojené státy), Maria L. ESCOLAR (840 Spojené státy), Joanne KURTZBERG (840 Spojené státy), Joseph J. ORSINI (840 Spojené státy), Frantisek TURECEK (203 Česká republika), C. Ronald SCOTT (840 Spojené státy) a Michael H. GELB (840 Spojené státy).
Vydání Clinical Chemistry, Washington, USA, AMER ASSOC CLINICAL CHEMISTRY, 2017, 0009-9147.
Další údaje
Originální jazyk angličtina
Typ výsledku Článek v odborném periodiku
Obor 20602 Medical laboratory technology ;
Stát vydavatele Spojené státy
Utajení není předmětem státního či obchodního tajemství
WWW URL
Impakt faktor Impact factor: 8.636
Kód RIV RIV/00216224:14310/17:00097720
Organizační jednotka Přírodovědecká fakulta
Doi http://dx.doi.org/10.1373/clinchem.2016.264952
UT WoS 000406417600010
Klíčová slova anglicky UMBILICAL-CORD BLOOD; NEW-YORK-STATE; TRANSPLANTATION; SPOTS
Štítky NZ, rivok
Příznaky Mezinárodní význam, Recenzováno
Změnil Změnila: Ing. Nicole Zrilić, učo 240776. Změněno: 6. 4. 2018 15:30.
Anotace
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.
VytisknoutZobrazeno: 17. 6. 2024 12:09