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| 1 |
Role of Tetrahydrobiopterin (BH4) Therapy in PKU
Shintaku, Haruo;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.2, pp.55-58,
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| 2 |
Simultaneous Quantification of Urinary L-, and D-Lactate by Reversed-Phase Liquid Chromatography Tandem Mass Spectrometry
Moon, Chul Jin;Yang, Song Hyun;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.2, pp.59-64,
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| 3 |
Diagnostic Method for Inborn Metabolic Disorders using differentiation between D- and R- Isomers on GC-MS
Yoon, Hye-Ran;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.2, pp.65-71,
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| 4 |
Clinical and Biochemical Diagnosis in Children with Leigh Syndrome
Lee, Sun Ho;Jeon, Mina;Lee, Hyun Joo;Park, Dae Young;Kim, Se Hoon;Lee, Young-Mock;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.2, pp.72-77,
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| 5 |
Clinical Features and Genetic Analysis of Homocystinuria Patients in Korea
Lee, Yena;Lee, Jeongho;Lee, Dong Hwan;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.2, pp.78-86,
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| 6 |
A Case of Mucopolysaccharidosis Type 2 Diagnosed Early through Brain MRI
Lee, Yoon kyoung;Cho, Sung Yoon;Kim, Jinsup;Huh, Rimm;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.2, pp.87-92,
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| 7 |
Short-chain Acyl-CoA Dehydrogenase Deficiency in an Asymptomatic Neonate
Lee, Yeonhee;Kim, Jinsup;Huh, Rimm;Cho, Sung Yoon;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.2, pp.93-97,
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| 8 |
A Case of asymptomatic Short-chain Acyl-CoA Dehydrogenase Deficiency
Lee, Hwapyung;Kim, Jinsup;Huh, Rimm;Cho, Sung Yoon;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.15, no.2, pp.98-100,
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