Works matching AU Han-Wook Yoo


Results: 153
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    The definition of neuronopathic Gaucher disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1056, doi. 10.1002/jimd.12235
    By:
    • 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
    Publication type:
    Article
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    High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.

    Published in:
    European Journal of Endocrinology, 2011, v. 165, n. 5, p. 771, doi. 10.1530/EJE-11-0597
    By:
    • Jae-Min Kim;
    • Jin-Ho Choi;
    • Jung Hyun Lee;
    • Gu-Hwan Kim;
    • Beom Hee Lee;
    • Hae Soon Kim;
    • Jeh-Hoon Shin;
    • Choong-Ho Shin;
    • Chan Jong Kim;
    • Jeesuk Yu;
    • Dae-Yeol Lee;
    • Won Kyoung Cho;
    • Byung-Kyu Suh;
    • Ji Eun Lee;
    • Hye Rim Chung;
    • Han-Wook Yoo
    Publication type:
    Article
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    Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.

    Published in:
    JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10744
    By:
    • 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
    Publication type:
    Article
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