Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100611
Abstract: In Japan, carnitine palmitoyltransferase II (CPTII) deficiency has been included as one of the primary target diseases in the expanded newborn mass screening program since 2018. However, many cases of the severe infantile hepatocardiomuscular form… read more here.
Keywords: expanded newborn; management; clinical management; carnitine palmitoyltransferase ... See more keywords
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population
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DOI: 10.3389/fgene.2018.00122
Abstract: The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment… read more here.
Keywords: incidence; expanded newborn; mmachc genes; jining area ... See more keywords
Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.763222
Abstract: Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity. However, there are no… read more here.
Keywords: incidence rate; expanded newborn; inherited metabolic; metabolic disorders ... See more keywords