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| 1 |
The Past, Present, Future of Newborn Screening in Korea
Lee, Dong Hwan;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.1-9,
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| 2 |
Systematic Approach for the Diagnosis of IEM in the Neonatal Period
Lee, Hong Jin;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.10-18,
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| 3 |
Inborn Errors of Metabolism with Bony Manifestation
Huh, Rimm;Cho, Sung Yoon;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.19-28,
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| 4 |
뮤코다당증의 장기 치료 효과와 한계점 극복을 위한 노력
Son, Yeong-Bae;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.29-36,
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| 5 |
Long-term Effectiveness of Enzyme Replacement Therapy in Fabry Disease
Kim, Ja Hye;Cho, Ja Hyang;Choi, Jin-Ho;Lee, Beom Hee;Yoo, Han-Wook;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.37-41,
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| 6 |
Longterm Benefit and Unmet Needs in Enzyme Replacement Therapy of Gaucher
Kim, Yoo-Mi;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.42-47,
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| 7 |
Clinical and Molecular Genetic Characteristics of Korean Patients with Smith-Lemli-Opitz Syndrome: A Report of New Patients with a Literature Review
Ko, Jung Min;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.48-53,
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| 8 |
A Case of Cerebral Adrenoleukodystrophy with c.1252C>T Mutation inABCD1 Gene
Jeong, Yu Ju;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Ki, Chang-Seok;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.54-59,
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| 9 |
A Case of Smith-Lemli-Opitz Syndrome in DHCR7 Mutation
Jeong, Yu Ju;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Ki, Chang-Seok;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.60-65,
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| 10 |
A Case of Adrenoleukodystrophy Diagnosed as Hyponatremic Dehydration
Lee, Sang Heon;Kim, HyungJin;Kwon, Young-Se;Kim, Soon-Ki;Lee, Ji-Eun;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.1, pp.66-70,
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