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MeSH:( BRAIN DISEASES, METABOLIC, INBORN)

1.Menkes disease mimicking non-accidental injury in a Filipino child

Dion-Berboso April Grace ; Madrid Bernadette J. ; Melendres Cerissa T. ; Chiong Mary Anne D.

Acta Medica Philippina 2011;45(4):73-75

2.Inborn errors of metabolism presenting as neonatal encephalopathy: practical tips for clinicians.

Ee Shien TAN

Annals of the Academy of Medicine, Singapore 2008;37(12 Suppl):94-93

3.Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1.

Shu XYU ; Chen XU ; Yuan LYU ; Chuang LI ; Caixia LIU

Chinese Journal of Medical Genetics 2022;39(2):213-215

4.Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ.

Jianqiang TAN ; Dayu CHEN ; Tizhen YAN ; Jun HUANG ; Ren CAI

Chinese Journal of Medical Genetics 2019;36(9):882-885

5.Clinical phenotype and novel mutation in one of twins with glutaric acidemia type I.

Ying WANG ; Shujun FU ; Yuqi YANG ; Huaiyan WANG ; Yuping ZHANG ; Hong ZHOU ; Bin YU

Chinese Journal of Medical Genetics 2019;36(6):602-605

6.Inborn Errors of Metabolism in Korea.

Hong Jin LEE

Journal of the Korean Neurological Association 2004;22(1):1-10

7.Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria.

Yukui DENG ; Gen TANG ; Pengqiang WEN ; Guobing WANG ; Cailei ZHAO ; Zhanling CHEN ; Xiuwei ZHANG ; Xiaohong LIU ; Dong CUI ; Chengrong LI

Chinese Journal of Medical Genetics 2016;33(1):48-52

8.Limb torsion and developmental regression for one month after hand, foot and mouth disease in an infant.

Li-Fang FENG ; Xiao-Hong CHEN ; Dong-Xiao LI ; Yuan DING ; Ying JIN ; Jin-Qing SONG ; Yan-Ling YANG

Chinese Journal of Contemporary Pediatrics 2016;18(5):426-430

9.Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation.

Jian-ming ZHANG ; Xue-fan GU ; Xin-hua SHAO ; Xiao-qing SONG ; Lian-shu HAN ; Jun YE ; Wen-juan QIU ; Xiao-lan GAO ; Yu WANG ; Mei-xian WANG

Chinese Journal of Pediatrics 2007;45(12):932-936

10.Clinical and variation analysis of three Chinese families affected with glutaric acidemia type 1.

Xiaorong SHI ; Zhonglin KE ; Aidong ZHENG ; Wenhuang XIE ; Guiling MO

Chinese Journal of Medical Genetics 2018;35(6):796-799

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