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Retrospective Evaluation of the Dutch Pre‐newborn Screening Cohort for Propionic Acidemia and Isolated Methylmalonic Acidemia: What to Aim, Expect, and Evaluate from Newborn Screening?

Hanneke A. Haijes,Femke Molema,Mirjam Langeveld,Mirian C. Janssen,Annet M. Bosch,Francjan van Spronsen,Margot F. Mulder,Nanda M. Verhoeven-Duif,Judith J. M. Jans,Ans T. van der Ploeg, Margreet A. Wagenmakers,M. Estela Rubio-Gozalbo,Martijn C. G. J. Brouwers,Maaike C. de Vries,Janneke G. Langendonk,Monique Williams,Peter M. van Hasselt

JOURNAL OF INHERITED METABOLIC DISEASE（2020）

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关键词
methylmalonic acidemia,MMA,NBS,newborn screening,PA,propionic acidemia
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