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.
Artigo
em Chinês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo de rastreamento
Idioma:
Chinês
Revista:
Chinese Journal of Internal Medicine
Ano de publicação:
2018
Tipo de documento:
Artigo
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