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Newborn Screening for Vitamin B 12 Deficiency in Germany-Strategies, Results, and Public Health Implications.

The Journal of Pediatrics(2020)

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摘要
Vitamin B deficiency is a treatable condition but can cause severe neurologic sequelae in infants if untreated. The proposed screening strategy is feasible and effective to identify moderate and severe cases of vitamin B deficiency. With an incidence of 1:5355 newborns, vitamin B deficiency is more frequent than inborn errors of metabolism included in NBS panels. Treatment of vitamin B deficiency is easy, and additional benefits can be achieved for previously undiagnosed affected mothers. This supports inclusion of vitamin B deficiency into NBS but also stresses the need for increased awareness of vitamin B deficiency in caregivers of pregnant women.
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关键词
prevention,mother and child health,screening
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