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Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication

Jo Hy, Jang HJ, Kim YM, Choi SH, Park KH, Yoo HW, Park SJ, Jo YH, Kwak MJ

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Adult height in girls with central precocious puberty without gonadotropin-releasing hormone agonist treatment: a retrospective case-control study

Jang HJ, Kwak MJ, Kim YM, Choi SH, Park KH, Yoo HW, Park SJ, Jo YH, Jo HY

Background: The primary aim of this study was to investigate the final adult height (FAH) of girls diagnosed with central precocious puberty (CPP) who were untreated. Methods: We retrospectively analyzed the...
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Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes

Lee Ny, Kim JH, Yoon JH, Hwang S, Kim GH, Yoo HW, Choi JH

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...
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Psychological Distress and Perceived Burden in Parents of Korean Children With IgE-Mediated Food Allergy

Jung M, Kang U, Kim S, Yoo HW, Kim HY, Kim M, Lee JY, Kim K, Lee E, Kang BC, Park B, Ahn K, Kim J

Background: Food allergy (FA) can have a profound effect on quality of life (QoL), stress, and anxiety in the family. We aimed to validate the Korean version of the Food...
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Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

Kim JH, Kim GH, Yoo HW, Choi JH

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...
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Clinical Usefulness of a Multiplex Molecular Panel for Central Nervous System Infection: An 11-Month Experience at a Tertiary Center in Korea

Lee YJ, Yang EH, Jo YH, Choi SH, Yoo HW, Cho HY, Kwak MJ, Park SJ, Park KH, Kim YM

Purpose: The purpose of our study was to evaluate the usefulness of the BiofireFilmArray Meningitis/Encephalitis (FA ME) panel and identify factors associated with positive FA ME panel results. Methods: We...
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Effect of gonadotropin-releasing hormone agonist treatment on near final height in girls with central precocious puberty and early puberty

Yang EH, Jo HY, Park SJ, Yoo HW, Choi SH, Kim HY, Park KH, Kim YM, Kwak MJ

Purpose: The aim of this study was to examine whether gonadotropin-releasing hormone (GnRH) agonist treatment is effective in preserving final height in patients with central precocious puberty (CPP) or early...
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Incidence of congenital hypothyroidism by gestational age: a retrospective observational study

Jo HY, Yang EH, Kim YM, Choi SH, Park KH, Yoo HW, Park SJ, Kwak MJ

Background: Congenital hypothyroidism (CH) is the leading cause of preventable physical and intellectual disabilities. This study aimed to assess the incidence and clinical characteristics of CH in newborns. Methods: We retrospectively...
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Three pediatric patients with primary hyperparathyroidism caused by parathyroid adenoma

Oh A, Lee Y, Yoo HW, Choi JH

Primary hyperparathyroidism (PHPT) is a hypercalcemia disorder with inappropriately normal or increased serum parathyroid hormone (PTH) levels resulting from excessive secretion of PTH from one or more of the parathyroid...
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Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone Deficiency

Lee YJ, Choi Y, Yoo HW, Lee YA, Shin CH, Choi HS, Kim HS, Kim JH, Moon JE, Ko CW, Ahn MB, Suh BK, Choi JH

Background: Discontinuing growth hormone (GH) treatment during the transition to adulthood has been associated with adverse health outcomes in patients with childhood-onset growth hormone deficiency (CO-GHD). This study investigated the...
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Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

Choi Y, Hwang S, Kim GH, Lee BH, Yoo HW, Choi JH

Purpose: Osteogenesis imperfecta (OI) is a rare bone fragility disorder caused by defects in type 1 collagen biosynthesis. This study investigated the genotype-phenotype correlations and the efficacy of pamidronate therapy...
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Two-dimensional shear wave elastography for assessing liver fibrosis in patients with chronic liver disease: a prospective cohort study

Yoo HW, Kim SG, Jang JY, Yoo JJ, Jeong SW, Kim YS, Kim BS

Background/Aims: The objective of this study was to determine whether the newly developed two-dimensional shear wave elastography (2D-SWE, RS85, Samsung-shearwave imaging) was more valid and reliable than transient elastography (TE)...
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Non-alcoholic Fatty Liver Disease and COVID-19 Susceptibility and Outcomes: a Korean Nationwide Cohort

Yoo HW, Jin HY, Yon DK, Effenberger M, Shin YH, Kim SY, Yang JM, Kim MS, Koyanagi A, Jacob L, Smith L, Yoo IK, Shin JI, Lee SW

Background: Evidence for the association between underlying non-alcoholic fatty liver disease (NAFLD), the risk of testing severe acute respiratory syndrome coronavirus 2 (SARSCoV-2) positive, and the clinical consequences...
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Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age

Yoo HW

Primary adrenal insufficiency (PAI) in pediatric age is a rare, but potentially fatal condition caused by diverse etiologies including biochemical defects of steroid biosynthesis, developmental abnormalities of the adrenal gland,...
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Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents

Yoon JH, Choi Y, Lee Y, Yoo HW, Choi JH

Purpose: Osteoporosis is a skeletal disorder characterized by reduced bone mass that results in increased risk of fractures. Pediatric osteoporosis can be caused by monogenic diseases, chronic diseases, and/or their...
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Inferior Mesenteric Artery Embolization with N-Butyl Cyanoacrylate for Life-Threatening Postpartum Hemorrhage: A Report of Two Cases and Literature Review

Yoo HW, Choi MJ, Kim BM

The inferior mesenteric artery is a rare source of postpartum hemorrhage. We report two cases of primary postpartum hemorrhage that originated from the inferior mesenteric artery after vaginal delivery. Both...
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Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia

Jang JG, Oh SH, Kim YB, Kim SH, Yoo HW, Lee BH, Namgoong JM, Kim DY, Kim KH, Song GW, Moon DB, Hwang S, Lee SG, Kim KM

Purpose: Despite aggressive medical and nutritional management, patients with methylmalonic acidemia (MMA) often suffer from multi-organ damage. Early deceased donor liver transplantation (DDLT) has emerged as an intervention to prevent...
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Clinical characteristics of congenital pulmonary airway malformation of the lungs: A single-center study

Yoo HW, Kim SH, Kim YM, Kwak MJ, Kim HY

Purpose: Congenital pulmonary airway malformation (CPAM) is a rare developmental abnormality of the lungs. We investigated clinical characteristics of CPAM based on patient age at diagnosis. Methods: In this retrospective study,...
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Inborn Errors of Mitochondrial Fatty Acid Oxidation: Overview from a Clinical Perspective

Yoo HW

Mitochondrial fatty acid β-oxidation (mFAO), which is the major pathway for the degradation of fatty acids and is critical for maintaining energy homeostasis in the human body, consists of carnitine...
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Characteristics of children with trauma compared to those with disease in the emergency department: a Korean single regional emergency medical center study

Hwang Y, Jo HY, Yoo HW, Kim YM, Kim HY

Purpose: Trauma is the leading cause of death and disability in children. We aimed to compare the clinical characteristics of children with trauma and disease. Methods: We reviewed the medical records...
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