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| 1 |
Systematic Approach for the Diagnosis of IEM
Lee, Hong Jin;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.123-134,
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| 2 |
한국인 좌심실 비대증 환자들에서 파브리병 선별검사의 의의
Park, Hyeong-Du;Jo, Seong-Yun;Lee, Su-Yeon;Jeon, Eun-Seok;Park, Seung-U;Lee, Sang-Hun;Lee, Sang-Cheol;Choe, Jin-O;Park, Seong-Ji;Jang, Seong-A;Kim, Hyeong-Gwan;Gi, Chang-Seok;Kim, Jong-Won;Jin, Dong-Gyu;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.135-141,
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| 3 |
Clinical findings of Glycogen Disease Type Ia Patients in Korea
Park, Minju;Ahn, Hee Jae;Le, Jeongho;Lee, Dong Hwan;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.142-149,
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| 4 |
Analysis and Cut-off Adjustment of Dried Blood Spot 17alpha-hydroxyprogesterone Concentration by Birth Weight
Park, Seungman;Kwon, Aerin;Yang, Songhyeon;Park, Euna;Choi, Jaehwang;Hwang, Mijung;Nam, Hyeongyeong;Lee, Eunhee;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.150-155,
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| 5 |
A Case of Early Diagnosed Hunter Syndrome Detected by Large Head on Routine Examination
Lee, Seung Ho;Park, Woo Sung;Lee, Young Seok;Yu, Jeesuk;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.156-162,
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| 6 |
A DiGeorge Syndrome with both Basal Ganglia Calcification with 22q11.2 Deletion
Kim, Young Han;Choi, Joong Wan;Ryu, Hye Won;Bae, Eun Ju;Oh, Phil Soo;Lee, Hong Jin;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.163-167,
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| 7 |
A Case of Vascular Ehlers-Danlos Syndrome with Novel Mutation c.2931+2dupT in COL3A1 Gene
Yoon, You Min;Kim, Dong Chan;Kang, Min Jae;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.168-173,
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| 8 |
A Novel Mutation in the MUT Gene in an Asymptomatic Newborn with Isolated Methylmalonic Acidemia
Kwak, Min Jung;Kim, Yoo-Mi;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.174-177,
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| 9 |
A Case of Hunter Syndrome Diagnosed at Age of 2.5 Year
Choi, Miran;Kwun, Younghee;Jin, Dongkyu;Lee, Jieun;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.178-181,
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| 10 |
Type 2 GM1 Gangliosidosis Presented with Developmental Regression: A Case Report
Ko, Jung Min;Cho, Tae Joon;Chae, Jong-Hee;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.182-185,
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| 11 |
A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation
Son, Yeong-Bae;Jang, Ju-Yeong;Park, Hyeong-Du;Lee, Su-Yeon;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.186-190,
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| 12 |
A Patient with Mitochondrial Myopathy who Experienced Diabetic Ketoacidosis with Auto-antibody
Nam, Soon Young;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Jin, Dong-Kyu;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.191-194,
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| 13 |
색소 과다 침착만으로 조기 발견한 소아 부신백질이영양증 1례
Park, Seon-Hyeong;Hong, Yong-Hui;
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The Korea Society of Inherited Metabolic Disease
, v.14, no.2, pp.195-199,
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