Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk-Reference-Cited by-同舟云学术

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Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk

Published:2016 Issue:Suppl 1 Volume:59 Page:S41
ISSN:1738-1061
Container-title:Korean Journal of Pediatrics
language:en
Short-container-title:Korean J Pediatr

Author:

Cho Kyung Lae¹,Kim Yeo Jin¹,Yang Song Hyun²,Kim Gu-Hwan³,Lee Jun Hwa¹

Affiliation:

1. Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.

2. Green Cross Reference Laboratory, Seoul, Korea.

3. Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Publisher

Korean Pediatric Society

Subject

Pediatrics,Pediatrics, Perinatology, and Child Health

Link

https://synapse.koreamed.org/pdf/10.3345/kjp.2016.59.11.S41

Reference9 articles.

1. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

2. Elevated neonatal 3-OH isovalerylcarnitine due to breast milk sources in maternal 3-MCC deficiency

3. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

4. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

5. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency;International Journal of Neonatal Screening;2020-07-28

2. A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy;International Journal of Environmental Research and Public Health;2020-05-20

3. 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?;Journal of Pediatric Endocrinology and Metabolism;2019-12-18

4. Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency;Journal of Genetic Medicine;2017-06-30

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