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Journal of the Korean Society of Inherited Metabolic Disease
Search Results :
9
  
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1
A Case of Pseudodeficiency in a Potential Late Onset Pompe Disease Carrier, with Double Dual Variant
...
Kim Seung-Ho
Kim Goo-Lyeon, Chang Young-Pyo, Lee Dong-Hwan
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No.2 58 ~ 62
2
Congenital Metabolic Disorders with Cutaneous Changes
Lee Sang-Eun
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No.2 53 ~ 57
3
Endocrine Manifestations Related with Inborn Errors of Metabolism
Lee Jeog-Ho
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No.2 46 ~ 52
4
Inherited Metabolic Disorders Involving the Eye
Jung Jae-Ho
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No.2 37 ~ 45
5
Plasma Amino Acid and Urine Organic Acid Analyses in Leigh Syndrome
Na Ji-Hoon
Lee Hyun-Joo, Lee Hae-In, Huh Eui-Ra, Lee Young-Mock
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No.1 28 ~ 36
6
Very Long Chain Acyl-coenzyme A Dehydrogenase Deficiency: A Review of Pathophysiology, Clinical Mani
...
Kang Seok-Jin
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No.1 21 ~ 27
7
Neurological Outcome of Patients with Late-onset Ornithine Transcarbamylase Deficiency
Jang Kyung-Mi
Hwang Su-Kyeong
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No.1 15 ~ 20
8
Glutaric Aciduria Type I: The Newborn Screening Program Changes the Outcomes of the Disease
Kim Su-Jin
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No.1 9 ~ 14
9
Long-chain Fatty Acid Oxidation Disorders and Therapeutic Approach
Lee Jung-Hyun
Journal of the Korean Society of Inherited Metabolic Disease
2022 Volume.22 No.1 1 ~ 8