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MeSH:(Ornithine Carbamoyltransferase Deficiency Disease/diagnosis*)

1.Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency.

Lu-lu MENG ; Tao JIANG ; Ling QIN ; Ding-yuan MA ; Yu-lin CHEN ; Shu-ping HAN ; Zhang-bin YU ; Xi-ron GUO ; Ping HU ; Zheng-feng XU

Chinese Journal of Medical Genetics 2013;30(2):195-198

3.Characterization of Molecular Defects in Korean Families with Inherited Ornithine Transcarbamylase Deficiency and Their Genotype-Phenotype Correlations.

Han Wook YOO

Journal of the Korean Pediatric Society 1999;42(7):900-910

4.A Case of Molecular Diagnosis of Ornithine Transcarbamylase Deficiency.

Eun Sil LEE

Yeungnam University Journal of Medicine 2007;24(2):322-328

5.CT and MR Imaging in 3 Patients with Hyperammonemia Due to Ornithine Transcarbamylase Deficiency.

Ki Jung KIM ; Dae Ho KIM ; Hye Kyung LEE ; Deuk Lin CHOI ; Hyun Sook HONG ; Mi Sun JUNG ; Kui Kyang KWON

Journal of the Korean Radiological Society 1995;33(3):439-442

6.Successful Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency, Junctional Epidermolysis Bullosa and Lactic Acidosis Using Duplex Nested PCR: Delivery of Healthy Baby by Specific Preimplantation Genetic Diagnosis for Ornithine Tran.

Hyoung Song LEE ; Hye Won CHOI ; Chun Kyu LIM ; Dong Mi MIN ; Hye Kyung BYUN ; Jin Young KIM ; Mi Kyoung KOONG ; Han Wook YOO ; Soo Chan KIM ; Jin Hyun JUN ; Inn Soo KANG

Korean Journal of Obstetrics and Gynecology 2004;47(4):708-718

7.Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency.

Dae Eun CHOI ; Kang Wook LEE ; Young Tai SHIN ; Ki Ryang NA

Journal of Korean Medical Science 2012;27(5):556-559

8.Two Cases of Citrullinemia Presented with Strokes.

Hyun Mi KIM ; Jae Bok KIM ; Jung Ho KIM ; Sang Jin BAE ; Chong Hyun YOON ; Han Wook YOO

Journal of the Korean Pediatric Society 1999;42(3):437-441

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