Associated Papers
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry.
Tang C et al.
International Journal of Neonatal Screening, 2024
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F et al.
Journal of Inherited Metabolic Disease, 2021
[Analysis of 12 cases with methylmalonicacidemia cblA type].
E H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches.
Ji X et al.
Prenatal Diagnosis, 2019
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.
Lin Y et al.
Bmc Medical Genetics, 2018
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