The clinical and laboratory characteristics of congenital pyruvate kinase deficiency / 中华内科杂志
Chinese Journal of Internal Medicine
;
(12): 511-513, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-710085
ABSTRACT
Clinical data of 19 patients with congenital pyruvate kinase deficiency were analyzed. Insufficient pyruvate kinase confirmed the diagnosis. Laboratory parameters of hemolysis were summarized. In cases of neonatal hyperbilirubinemia and unexplained hemolytic anemia, pyruvate kinase activity and next generation sequencing test may help the early diagnosis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio de tamizaje
Idioma:
Chino
Revista:
Chinese Journal of Internal Medicine
Año:
2018
Tipo del documento:
Artículo
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