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| 1 |
Clinical Findings and Gene Analysis of 3-Methylcrotonyl-CoA Carboxylase Deficiency
Lee, Seung Eun;Ahn, Hee Jae;Lee, Jeongho;Lee, Dong Hwan;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.1, pp.1-8,
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| 2 |
Heterogenous Clinical Manifestations in Adult Patients with Late Diagnosis of Glycogen Storage Disease type Ia
Kim, Yoo-Mi;Cheon, Chong Kun;Kim, Gu-Hwan;Yoo, Han-Wook;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.1, pp.9-17,
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| 3 |
Clinical and Molecular Characterization of Korean Patients with Glycogen Storage Type 1b
Cho, Ja Hyang;Kim, Yoo-Mi;Choi, Jin-Ho;Lee, Beom Hee;Kim, Gu-Hwan;Yoo, Han-Wook;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.1, pp.18-24,
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| 4 |
Neonatal Mitochondrial Respiratory Chain Defect and Vaginal Embryonal Rhabdomyosarcoma: Possibility of Oncogenesis?
Cho, Min Su;Hur, Jin Ho;Park, Dae Young;Cho, SiHyun;Kim, Se Hoon;Lee, Young-Mock;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.1, pp.25-28,
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| 5 |
A Case of Citrullinemia Type 1 in ASS 1 Mutation
Yim, Dae kyoon;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Park, Hyung Doo;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.1, pp.29-34,
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| 6 |
Medium-chain Acyl-CoA Dehydrogenase Deficiency in an Asymptomatic Neonate
Kyung, Yechan;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Jin, Dong-Kyu;Lee, Jeongho;Lee, Dong Hwan;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.1, pp.35-39,
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| 7 |
A Case of Short-chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening
Park, Kyungwon;Ko, Jung Min;Jung, Goun;Lee, Hee Chul;Yoon, So Young;Ko, Sun Young;Lee, Yeon Kyung;Shin, Son Moon;Park, Sung Won;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.1, pp.40-43,
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| 8 |
A Case Report for a Korean Patient with Mucopolysaccharidosis IIIA Confirmed by Biochemical and Molecular Genetic Investigation
Kim, Borahm;Cho, Sung Yoon;Sohn, Young Bae;Park, Hyung-Doo;Lee, Soo-Youn;Song, Junghan;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.1, pp.44-48,
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| 9 |
A Clinically Diagnosed Case of Multiple Epiphyseal Dysplasia
Kim, Sun-Ja;Cho, Sung Yoon;Kim, Jinsup;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Shim, Jongsup;Kim, Ok-Hwa;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.1, pp.49-54,
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