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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Screening study
Language:
Chinese
Journal:
Chinese Journal of Internal Medicine
Year:
2018
Type:
Article
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