- Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis
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Noh ES, Kim C, Cho SY
- KMID: 2549327
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S1-S2.
- doi: 10.6065/apem.2244286.143
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- A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism
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Kim C, Noh Es, Cho SY
- KMID: 2549331
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S12-S13.
- doi: 10.6065/apem.2244130.065
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- Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation
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Kim J, Noh ES, Kim MS, Choi JM, Lee SM, Cho SY
- KMID: 2553020
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):67-69.
- doi: 10.6065/apem.2346056.028
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- First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
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Song A, Im M, Kim MS, Noh ES, Kim C, Jang J, Lee SM, Ki CS, Cho SY, Jin DK
- KMID: 2540790
- Ann Pediatr Endocrinol Metab.
- 2023 Mar;28(1):67-72.
- doi: 10.6065/apem.2142134.067
Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive... -
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- Continuous Renal Replacement Therapy in Preterm Infants
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Noh ES, Kim HH, Kim HS, Han YS, Yang M, Ahn SY, Sung SI, Chang YS, Park WS
- KMID: 2459152
- Yonsei Med J.
- 2019 Oct;60(10):984-991.
- doi: 10.3349/ymj.2019.60.10.984
PURPOSE: Despite the increasing use of continuous renal replacement therapy (CRRT) in the neonatal intensive care unit (NICU), few studies have investigated its use in preterm infants. This study evaluated... -
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- Development and validation of the Pediatric-Youth Hyperphagia Assessment for Prader-Willi syndrome
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Cho SY, Kang D, Im M, Yang A, Kim MS, Kim J, Noh ES, Kwon EK, Choi E, Han S, Park YA, Kwak MJ, Kim Y, Cho J, Jin DK
- KMID: 2536687
- Epidemiol Health.
- 2022;44(1):e2022014.
- doi: 10.4178/epih.e2022014
OBJECTIVES: Hyperphagia is a highly stressful, life-threatening feature of Prader-Willi syndrome (PWS). It is important to assess this complex behavior accurately over time. This study aimed to develop and validate... -
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