The definition of neuronopathic Gaucher disease
Schiffmann, Raphael, Sevigny, Jeff, Rolfs, Arndt, Davies, Elin Haf, Goker‐Alpan, Ozlem, Abdelwahab, Magy, Vellodi, Ashok, Mengel, Eugen, Lukina, Elena, Yoo, Han‐Wook, Collin‐Histed, Tanya, Narita, Aya, Dinur, Tama, Revel‐Vilk, Shoshana, Arkadir, David, Szer, Jeff, Wajnrajch, Michael, Ramaswami, Uma, Sidransky, Ellen, Donald, Aimee, Zimran, Ari
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
Portale, Anthony A., Carpenter, Thomas O., Brandi, Maria Luisa, Briot, Karine, Cheong, Hae II, Cohen-Solal, Martine, Crowley, Rachel, Jan De Beur, Suzanne, Eastell, Richard, Imanishi, Yasuo, Imel, Erik A., Ing, Steven, Ito, Nobuaki, Javaid, Muhammad, Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin, Perwad, Farzana, Pitukcheewanont, Pisit, Ralston, Stuart H., Takeuchi, Yasuhiro, Tanaka, Hiroyuki, Weber, Thomas J., Yoo, Han-Wook, Zhang, Lin, Theodore-Oklota, Christina, Mealiffe, Matt, San Martin, Javier, Insogna, Karl
Published in Calcified tissue international (01.09.2019)
Published in Calcified tissue international (01.09.2019)
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A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease
Hwang, Soojin, Bae, Hyunwoo, Yoon, Ji‐Hee, Kim, Dohyung, Do, Hyo‐Sang, Heo, Sun Hee, Kim, Soyoung, Yoo, Han‐Wook, Istaiti, Majdolen, Zimran, Ari, Lee, Beom Hee
Published in American journal of hematology (01.07.2024)
Published in American journal of hematology (01.07.2024)
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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
Germain, Dominique P, Oliveira, João Paulo, Bichet, Daniel G, Yoo, Han-Wook, Hopkin, Robert J, Lemay, Roberta, Politei, Juan, Wanner, Christoph, Wilcox, William R, Warnock, David G
Published in Journal of medical genetics (01.08.2020)
Published in Journal of medical genetics (01.08.2020)
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Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease
Kim, Eun-Hee, Yum, Mi-Sun, Ra, Young-Shin, Park, Jun Bum, Ahn, Jae Sung, Kim, Gu-Hwan, Goo, Hyun Woo, Ko, Tae-Sung, Yoo, Han-Wook
Published in Journal of neurosurgery (01.05.2016)
Published in Journal of neurosurgery (01.05.2016)
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Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy
Kim, Yoon-Myung, Yum, Mi-Sun, Heo, Sun Hee, Kim, Taeho, Jin, Hee Kyung, Bae, Jae-sung, Seo, Go Hun, Oh, Arum, Yoon, Hee Mang, Lim, Hyun Taek, Kim, Hyo-Won, Ko, Tae-Sung, Lim, Hyeong‐Seok, Osborn, Mark J, Tolar, Jakub, Cozma, Claudia, Rolfs, Arndt, Zimran, Ari, Lee, Beom Hee, Yoo, Han-Wook
Published in Journal of medical genetics (01.02.2020)
Published in Journal of medical genetics (01.02.2020)
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Clinical and molecular spectra of BRAF-associated RASopathy
Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Choi, In Hee, Keum, Changwon, Ko, Jung Min, Cheon, Chong Kun, Jeon, Jihyun, Choi, Jin-Ho, Yoo, Han-Wook, Lee, Beom Hee
Published in Journal of human genetics (01.04.2021)
Published in Journal of human genetics (01.04.2021)
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Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
Kang, Eungu, Kim, Yoon-Myung, Seo, Go Hun, Oh, Arum, Yoon, Hee Mang, Ra, Young-Shin, Kim, Eun Key, Kim, Heyry, Heo, Sun-Hee, Kim, Gu-Hwan, Osborn, Mark J, Tolar, Jakub, Yoo, Han-Wook, Lee, Beom Hee
Published in Journal of human genetics (01.01.2020)
Published in Journal of human genetics (01.01.2020)
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Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
Hwang, Soojin, Choi, Yunha, Lee, Beom Hee, Choi, Jin‐Ho, Kim, Ja Hye, Yoo, Han‐Wook
Published in JIMD reports (01.01.2023)
Published in JIMD reports (01.01.2023)
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High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing
Kim, Yoo‐Mi, Lee, Yun‐Jin, Park, Jae Hong, Lee, Hyoung‐Doo, Cheon, Chong Kun, Kim, Su‐Young, Hwang, Jae‐Yeon, Jang, Ja‐Hyun, Yoo, Han‐Wook
Published in Clinical genetics (01.12.2017)
Published in Clinical genetics (01.12.2017)
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Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs
Kim, Bumsoo, Koh, Yongjun, Do, Hyunsu, Ju, Younghee, Choi, Jong Bin, Cho, Gahyang, Yoo, Han-Wook, Lee, Beom Hee, Han, Jinju, Park, Jong-Eun, Han, Yong-Mahn
Published in International journal of molecular sciences (10.11.2022)
Published in International journal of molecular sciences (10.11.2022)
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Biochemical and molecular characteristics of citrin deficiency in Korean children
Oh, Seak Hee, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Kim, Kyung Mo, Yoo, Han-Wook
Published in Journal of human genetics (01.02.2017)
Published in Journal of human genetics (01.02.2017)
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Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care
Munns, Craig F, Yoo, Han‐Wook, Jalaludin, Muhammad Yazid, Vasanwala, Rashida, Chandran, Manju, Rhee, Yumie, BUT, Wai Man, Kong, Alice Pik‐Shan, Su, Pen‐Hua, Numbenjapon, Nawaporn, Namba, Noriyuki, Imanishi, Yasuo, Clifton‐Bligh, Roderick J, Luo, Xiaoping, Xia, Weibo
Published in JBMR plus (01.06.2023)
Published in JBMR plus (01.06.2023)
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Identification of extremely rare mitochondrial disorders by whole exome sequencing
Seo, Go Hun, Oh, Arum, Kim, Eun Na, Lee, Yeonmi, Park, Jumi, Kim, Taeho, Lim, Young-Min, Kim, Gu-Hwan, Kim, Chong Jai, Yoo, Han-Wook, Kang, Eunju, Lee, Beom Hee
Published in Journal of human genetics (01.11.2019)
Published in Journal of human genetics (01.11.2019)
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A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome
Kim, Jin-Kyung, Jeong, Ji-Eun, Choi, Jong-Moon, Kim, Gu-Hwan, Yoo, Han-Wook
Published in Journal of human genetics (01.06.2020)
Published in Journal of human genetics (01.06.2020)
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