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| 1 |
A Diagnostic Algorithm of Newborn Screening for Galactosemia
Sohn, Young Bae;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.3, pp.101-109,
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| 2 |
Differential Diagnosis of Hyperphenylalaninemias
Lee, Jeongho;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.3, pp.110-117,
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| 3 |
Long-term Follow-up of Patients with BH4 Deficiency in Korea
Bang, Hyunho;Lee, Jeongho;Lee, Dong Hwan;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.3, pp.118-126,
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| 4 |
MicroRNA Expression Profiling in Cell and Mouse Models of Fabry Disease to Identify Biomarkers for Fabry Disease Nephropathy
Jung, Namhee;Park, Saeyoung;Jeon, Yeo Jin;Choi, Yoonyoung;Jung, Sung-Chul;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.3, pp.127-137,
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| 5 |
A Rapid, Simple Determination of Sulfur-containing Compounds and Methylmalonic Acid on Plasma using GC-MS-SIM for the Diagnosis of Homocysteinemia
Yoon, Hye-Ran;Thapa, Maheshwor;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.3, pp.138-146,
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| 6 |
Ketolytic Defects in Children and Adolescents
Choi, Joong Wan;Ahn, Seok Min;Kim, Young Han;Baek, Joon Woo;Ryu, Hye Won;Bae, Eun Joo;Lee, Hong Jin;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.3, pp.147-154,
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| 7 |
An Infant Case of Citrin Deficiency with Corresponding Biochemical Features and a Heterozygous SLC25A13 Mutation
Kang, Su Min;Chi, Yang Hyun;Lee, Jun Hwa;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.3, pp.155-159,
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| 8 |
A Case of Hunter Syndrome Presented with Chronic Purulent Rhinorrhea in 24-month-old Boy
Kim, I An;Jin, Jang Yong;Park, Jae Ock;Hong, Yong Hee;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.3, pp.160-164,
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| 9 |
A Case of Ornithine Transcarbamylase Deficiency in 11-month-old Female who Presented Periodic Vomiting and Intermittent Consciousness Change
Kim, Jin Ah;Kim, Jin Sup;Huh, Rimm;Cho, Sung Yoon;Jin, Dong Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.3, pp.165-170,
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