Search Results - "Young Bae Sohn"

Genetic obesity: an update with emerging therapeutic approaches by Sohn, Young Bae

“…Based on the genetic contribution, childhood obesity can be classified into 3 groups: common polygenic obesity, syndromic obesity, and monogenic obesity. More…”
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Updates on Paget’s Disease of Bone by Yong Jun Choi, Young Bae Sohn, Yoon-sok Chung

“…Paget’s disease of the bone is a prevalent bone disease characterized by disorganized bone remodeling; however, it is comparatively uncommon in East Asian…”
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Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome by Cheon, Chong Kun, Sohn, Young Bae, Ko, Jung Min, Lee, Yeoun Joo, Song, Ji Sun, Moon, Jea Woo, Yang, Bo Kyoung, Ha, Il Soo, Bae, Eun Jung, Jin, Hyun-Seok, Jeong, Seon-Yong

“…Kabuki syndrome (KS) (OMIM#147920) is a multiple congenital anomaly/mental retardation syndrome. Recently, pathogenic variants in KMT2D and KDM6A were…”
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Newborn Periventricular Nodular Heterotopia with Persistent Feeding Cyanosis and Apneic Spell: A Case Report by Hong, Seok Jin, Park, Ji Eun, Sohn, Young Bae, Suh, Yoong A, Lee, Jang Hoon, Park, Moon Sung

“…Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic…”
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Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia by Kim, Eun Ah, Lim, Young Tae, Hah, Jeong Ok, Sohn, Young Bae, Kim, Yu Kyung, Choi, Joon Hyuk, Kim, Sae Yoon, Jang, Kyung Mi, Ahn, JiYoung, Lee, Jae Min

“…Gaucher disease (GD) is caused by a hereditary deficiency of glucocerebrosidase, resulting in accumulation of glucosylceramide and potentially manifesting as…”
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The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea by Cho, Sung Yoon, Ki, Chang-Seok, Sohn, Young Bae, Maeng, Se Hyun, Jung, You Jin, Kim, Su Jin, Jin, Dong-Kyu

“…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…”
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High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II by Ahn, So Yoon, Chang, Yun Sil, Sung, Dong Kyung, Ko, Ah-Ra, Kim, Chi Hwa, Yoo, Dong Kyeom, Lim, Keun Ho, Sohn, Young Bae, Jin, Dong Kyu, Park, Won Soon

“…The natural progression of the severe form of mucopolysaccharidosis II in children is a rapid decline of neurodevelopmental function with hydrocephalus…”
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The genetics of obesity: A narrative review by Sohn, Young Bae

“…Monogenic obesity is a rare, early-onset, and severe form of obesity that has a Mendelian inheritance pattern, high penetrance, and large genetic effect. In…”
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Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations by Sohn, Young Bae, Lee, Cha Gon, Ko, Jung Min, Yang, Jung-Ah, Yun, Jun-No, Jung, Eun-Jung, Jin, Hyun-Seok, Park, Sang-Jin, Jeong, Seon Yong

“…Sotos syndrome is an overgrowth syndrome with characteristic facial dysmorphism, variable severity of learning disabilities and macrocephaly with overgrowth…”
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A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing by Suh, Yoong-a, Sohn, Young Bae, Park, Moon Sung, Lee, Jang Hoon

“…Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually…”
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Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients by Sohn, Young Bae, Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won, Chae, Jong-Hee, Lee, Kyung-A

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Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review by Park, Don Gueu, Min, Je Hong, Sohn, Seong hyang, Sohn, Young Bae, Yoon, Jung Han

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood…”
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Analysis of the Influencing Factors of 17-Hydroxyprogesterone Level and the Correlation between 17-Hydroxyprogesterone Level and the Clinical Parameters Related to Adrenal Cortical Function in Very-Low-Birth-Weight Infants by Kum, Chang Dae, Lee, Mi Jin, Park, Moon Sung, Sohn, Young Bae, Noh, O Kyu, Lee, Jang Hoon

“…Purpose: 17-Hydroxyprogesterone (17-OHP) screening results are difficult to interpret owing to the many influencing factors, and confirming the test results…”
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Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial by Yang, Aram, Choi, Jin-Ho, Sohn, Young Bae, Eom, Yunae, Lee, Jiyoon, Yoo, Han-Wook, Jin, Dong-Kyu

“…Prader-Willi syndrome (PWS) is a rare complex genetic disorder and is characterized by short stature, muscular hypotonia, abnormal body composition,…”
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Updates on Paget's Disease of Bone by Choi, Yong Jun, Sohn, Young Bae, Chung, Yoon-Sok

“…Paget's disease of the bone is a prevalent bone disease characterized by disorganized bone remodeling; however, it is comparatively uncommon in East Asian…”
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The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects by Kim, Yoo-Mi, Choi, Jin-Ho, Kim, Gu-Hwan, Sohn, Young Bae, Ko, Jung Min, Lee, Beom Hee, Cheon, Chong Kun, Lim, Han Hyuk, Heo, Sun-Hee, Yoo, Han-Wook

“…Gaucher disease (GD) is caused by a deficiency of β-glucocerebrosidase, encoded by GBA. Haplotype analyses previously demonstrated founder effects for…”
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The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology by Sohn, Young Bae, Ko, Ah-Ra, Seong, Mi-ran, Lee, Soyeon, Kim, Mi Ra, Cho, Sung Yoon, Kim, Jung-Sun, Sakaguchi, Makoto, Nakazawa, Takahiro, Kosuga, Motomichi, Seo, Joo Hyun, Okuyama, Torayuki, Jin, Dong-Kyu

“…Mucopolysaccharidosis II (MPS II) is caused by a deficiency of iduronate-2-sulfatase that results in accumulation of glycosaminoglycans (GAG), including…”
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Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience by Kim, Su Jin, Lee, Sae-Mi, Choi, Jong-Moon, Jang, Ja-Hyun, Kim, Hyun Gi, Kim, Jung-Taek, Cho, Jae Ho, Sohn, Young Bae

“…Skeletal dysplasia (SD), a heterogeneous disease group with rare incidence and various clinical manifestations, is associated with multiple causative genes…”
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Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT) by Sohn, Young Bae, Wang, Raymond, Ashworth, Jane, Broqua, Pierre, Tallandier, Mireille, Abitbol, Jean-Louis, Jozwiak, Erin, Pollard, Laura, Wood, Timothy C., Aslam, Tariq, Harmatz, Paul R.

“…Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disorder characterized by deficient activity of arylsulfatase B enzyme (ASB)…”
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Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia by Kim, Eun Ah, Lim, Young Tae, Hah, Jeong Ok, Sohn, Young Bae, Kim, Yu Kyung, Choi, Joon Hyuk, Kim, Sae Yoon, Jang, Kyung Mi, Ahn, JiYoung, Lee, Jae Min

“…In the original publication of this article, Fig. 2 was published incorrectly…”
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