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Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis

Noh ES, Kim C, Cho SY

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A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism

Kim C, Noh Es, Cho SY

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Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation

Kim J, Noh ES, Kim MS, Choi JM, Lee SM, Cho SY

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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

Song A, Im M, Kim MS, Noh ES, Kim C, Jang J, Lee SM, Ki CS, Cho SY, Jin DK

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

Noh ES, Kim HH, Kim HS, Han YS, Yang M, Ahn SY, Sung SI, Chang YS, Park WS

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

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

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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