Zobrazeno 1 - 10
of 723
pro vyhledávání: '"Han‐Wook Yoo"'
Autor:
Han-Wook Yoo
Publikováno v:
Clinical and Experimental Pediatrics, Vol 67, Iss 7, Pp 315-327 (2024)
Most rare diseases (orphan diseases) still lack approved treatment options despite major advances in research providing the necessary tools to understand their molecular basis and legislation providing regulatory and economic incentives to expedite t
Externí odkaz:
https://doaj.org/article/144a3ce92bcb417eb01d7abecedf4d29
Autor:
Soojin Hwang, Yena Lee, Ji-Hee Yoon, Ja Hye Kim, Hyery Kim, Kyung-Nam Koh, Ho Joon Im, Han-Wook Yoo, Jin-Ho Choi
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 29, Iss 2, Pp 109-118 (2024)
Purpose As the survival rate from pediatric cancers has increased significantly with advances in treatment modalities, long-term endocrine complications have also risen. This study investigated the frequencies and risks of endocrine sequelae in child
Externí odkaz:
https://doaj.org/article/45ba5f228bd24dfb8feb491cffad4d4b
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 29, Iss 1, Pp 54-59 (2024)
Purpose Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-
Externí odkaz:
https://doaj.org/article/03bfec24869347f9914d21cd6c3fad06
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 29, Iss 1, Pp 60-66 (2024)
Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the LHCGR gene. Herein, we report a case of FMPP with a mutation of the LHCGR gene in a Korean b
Externí odkaz:
https://doaj.org/article/ea4bdcbba66943119a49084e047d440d
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss 3, Pp 184-192 (2023)
Purpose Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in pati
Externí odkaz:
https://doaj.org/article/512d4a7aad4d474e97a6af3c8668679c
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss 2, Pp 77-86 (2023)
Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~95%) are caused by mutations in the CYP21A2 gene, which encodes steroid 21-hy
Externí odkaz:
https://doaj.org/article/b3799b3678f146a2ab830b4dcf09a7d5
Autor:
Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Jieun Lee, Min Jae Kang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Publikováno v:
Endocrine Connections, Vol 12, Iss 5, Pp 1-11 (2023)
Objective: This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiple
Externí odkaz:
https://doaj.org/article/368140b25ade47a79889160fc12b6735
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 27-34 (2023)
Abstract Niemann–Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disease, resulting from mutations in the cholesterol trafficking proteins NPC1 or NPC2, which is characterized by progressive neurodegeneration and hepatic
Externí odkaz:
https://doaj.org/article/d1d992c4b91e4d609ce5f8e6999bd09e
Autor:
Yoon-Myung Kim, Yena Lee, Yunha Choi, In Hee Choi, Sun Hee Heo, Jung Min Choi, Hyo-Sang Do, Ja-Hyun Jang, Mi-Sun Yum, Han-Wook Yoo, Beom Hee Lee
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the genetic characteristics and treatment results of propranolol- or alpelisib-treated patients with lat
Externí odkaz:
https://doaj.org/article/c089b3d5ca8a4853bb48a1e9a785b7df
Autor:
Craig F Munns, Han‐Wook Yoo, Muhammad Yazid Jalaludin, Rashida Vasanwala, Manju Chandran, Yumie Rhee, Wai Man BUT, Alice Pik‐Shan Kong, Pen‐Hua Su, Nawaporn Numbenjapon, Noriyuki Namba, Yasuo Imanishi, Roderick J Clifton‐Bligh, Xiaoping Luo, Weibo Xia
Publikováno v:
JBMR Plus, Vol 7, Iss 6, Pp n/a-n/a (2023)
ABSTRACT X‐linked hypophosphatemia (XLH) is a rare, inherited, multisystem disorder characterized by hypophosphatemia that occurs secondary to renal phosphate wasting. Mutations in PHEX gene (located at Xp22.1) in XLH alter bone mineral metabolism,
Externí odkaz:
https://doaj.org/article/738ef1c63308428f943cc4cf638b2ada