Se Hyun Maeng

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Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional(More)
Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme replacement therapy (ERT) with idursulfase (Elaprase®) or idursulfase beta (Hunterase®) have been developed for these patients. The effect of ERT on(More)
PURPOSE Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical(More)
Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in the majority of OI types, but rare recessively inherited genes have also been reported. Recently, SERPINF1 has been reported as another(More)
BACKGROUND Respiratory virus (RV) infection can cause significant morbidity and mortality in pediatric cancer patients. Parainfluenza virus (PIV) is a common pathogen in childhood among the respiratory viruses. The objective of this study is to evaluate the impact of parainfluenza virus infection in pediatric cancer patients. PROCEDURE A retrospective(More)
Na Hee Lee, MD, Sung Yoon Cho, MD, Se Hyun Maeng, MD, Tae Yeon Jeon, MD, Young Bae Sohn, MD, PhD, Su Jin Kim, MD, PhD, Hyung-Doo Park, MD, PhD, Dong Kyu Jin, MD, PhD Departments of Pediatrics, Radiology & Center for Imaging Science, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Department of Medical Genetics, Ajou University(More)
Prader–Willi syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copy of maternally imprinted genes in chromosome region 15q11–13. The genetic subtypes of PWS are classified into deletion (∼70%), maternal uniparental disomy (mUPD; 25–30%), imprinting center defects (3–5%) and rare unbalanced translocations. Recently,(More)
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