논문KCI 등재
Diagnostic challenges of Allan-Herndon-Dudley syndrome: a case of hypothyroidism and developmental delay
0
조회
0
다운로드
0
인용
0
참고문헌
주제분류소아과학
관련 논문AI추천
A Novel c.826G>A Mutation in a Boy with Allan-Herndon-Dudley Syndrome: Clinical Significance of Thyroid Function Tests in Developmental Delay of Unknown Origin김구환, 김자혜, 문진화, 박병한, 신은경, 유한욱대한소아신경학회 · 대한소아신경학회지2017 · 제25권 제3호Delayed Diagnosis of Atypical Mowat-Wilson Syndrome기창석, 이지훈, 장미애, 장자현, 정유정, 조은해, 진동규대한진단검사의학회 · Laboratory Medicine Online2016 · 제6권 제2호A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenitaHeo Seung, Hwang Jin Soon, Lee Hae Sang, Shim Young Suk대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제3호A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations김수연, 이진숙, 채종희, 천정은, 최무림, 한지연대한신경과학회 · Journal of Clinical Neurology2020 · 제16권 제2호Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy권경현, 김태준, 이상건, 이선경, 이응준대한신경과학회 · Journal of Clinical Neurology2020 · 제16권 제1호Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation임한혁, Dong Yeop Kim, Hyung-Doo Park, Jae Woo Lim, Joon Yeol Bae, Young Dai Kwon, Young Hwa Song대한신생아학회 · Neonatal medicine2019 · 제26권 제2호
이 간행물의 다른 논문 (11건)
Commentary on "Somatrogon in pediatric growth hormone deficiency: a comprehensive review of clinical trials and real-world considerations"Kim Yoo-Mipp. 1-2Research advances in children's sleep and vitamin D levelsZhu Liuyan, Yao Danpp. 3-10Somatrogon in pediatric growth hormone deficiency: a comprehensive review of clinical trials and real-world considerationsManiatis Aristides K., Wajnrajch Michael P., Thomas Marc, Lee Jieun, Chung Sung Beompp. 11-16Clinical and epidemiological insights into early puberty in Thai girls: a 5-year studySahakitrungruang Taninee, Yaisilp Phattariya, Numsriskulrat Nattakarnpp. 17-24Impact of COVID-19 lockdown on blood glucose levels in pediatric patients with type 1 diabetes mellitusCho Min Hyung, Lee Hae Sang, Shim Young Sukpp. 25-30