RBC Enzyme Analysis / 임상소아혈액종양
Clinical Pediatric Hematology-Oncology
;
: 8-12, 2013.
Artículo
en Coreano
| WPRIM
| ID: wpr-221902
ABSTRACT
Among ~20 RBC enzyme deficiencies causing hereditary hemolytic anemia (HRA), deficiencies involving three RBC enzymes such as glucose-6-phosphatase, pyruvate kinase and pyrimidine 5'-nucleodiase were known to be relatively common. The methods that have been used for RBC enzyme analysis are based on the kinetic spectrophotometry. This method, however, usually requires multiple step reactions and manual manipulations which are labor-intensive and time-consuming, and carry a greater risk of error due to their complexity. To solve this problem, we had successfully developed the multiplex enzyme analysis for galactose using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). We are now trying to adopt this method to other RBC enzymes associated with HRA. The devised method will allow simple, rapid, sensitive and reproducible quantification of RBC enzymes and should be helpful for the confirmatory diagnosis of HRA caused by RBC enzyme deficiencies.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pirimidinas
/
Piruvato Quinasa
/
Espectrofotometría
/
Espectrometría de Masas
/
Glucosa-6-Fosfatasa
/
Galactosa
/
Anemia Hemolítica Congénita
Tipo de estudio:
Guía de Práctica Clínica
Idioma:
Coreano
Revista:
Clinical Pediatric Hematology-Oncology
Año:
2013
Tipo del documento:
Artículo
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