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MeSH:(Lipid Metabolism, Inborn Errors)

1.Sphingolipidoses.

Han Wook YOO

Hanyang Medical Reviews 2005;25(3):19-26

4.Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency.

Mengjun XIAO ; Zhenhua XIE ; Jing LIU ; Xian LI ; Qiang ZHANG ; Zhenkun ZHANG ; Dongxiao LI

Chinese Journal of Medical Genetics 2023;40(7):787-794

5.Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.

Li-Juan XIE ; Jian-Xing ZHU ; Xiao-Dong ZHU ; Hua-Jun LI ; Lian-Shu HAN ; Xue-Fan GU

Chinese Journal of Contemporary Pediatrics 2008;10(1):31-34

6.Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders.

Lian-shu HAN ; Jun YE ; Wen-juan QIU ; Xiao-lan GAO ; Yu WANG ; Yong-jun ZHANG ; Xue-fan GU

Chinese Journal of Medical Genetics 2007;24(6):692-695

8.Analysis of a child with carnitine palmitoyl transferase 1A deficiency due to variant of CPT1A gene.

Zhen ZHOU ; Liming YANG ; Hongmei LIAO ; Zeshu NING ; Bo CHEN ; Zhi JIANG ; Sai YANG ; Miao WANG ; Zhenghui XIAO

Chinese Journal of Medical Genetics 2021;38(2):184-187

9.Hypoadiponectinemia in Patients With Paroxysmal Atrial Fibrillation.

Byung Joo CHOI ; Jung Ho HEO ; In Soo CHOI ; Si Won LEE ; Hyun Soo KIM ; Jae Woo LEE ; Tae Joon CHA

Korean Circulation Journal 2012;42(10):668-673

10.A Korean Family with Cholesterol Ester Transfer Protein Deficiency.

Seo Young YOUN ; Ik Soon SHIN ; Yong Hee HONG ; Dong Hwan LEE

Journal of Genetic Medicine 2012;9(1):38-41

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