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Evaluation of Automated Platelet Aggregation Test Using a Sysmex CS-5100 Analyzer

An GD, Jeong IH, Lim HH, Woo KS, Kim KH, Kim JM, Han JY

Background The platelet aggregation test is widely used to measure antiplatelet therapy response and to detect platelet function disorders. CS-5100 (Sysmex Co., Japan) is a recently introduced coagulation analyzer that can...
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Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome

Kim YM, Lee YJ, Kim SY, Cheon CK, Lim HH

Prader-Willi syndrome (PWS), an imprinting disorder, results from the loss of expression of a paternal gene on chromosome 15q11-q13. Progressive obesity and its associated complications lead to increased morbidity and...
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Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia

Gang MH, Lee J, Lee YW, Shin JH, Lim HH, Kim YM, Chang My

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting...
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The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings

Lee IK, Lim HH, Kim YM

3-M syndrome is a rare autosomal recessive growth disorder characterized by severe growth retardation, low birth weight, characteristic facial features, and skeletal anomalies, for which three causative genes (CUL7, OBSL1,...
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First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

Bae EY, Yi Y, Lim HH, Lee JM, Lee B, Kim SY, Kim YM

Peroxisomal D-bifunctional protein (DBP), encoded by the HSD17B4 gene, catalyzes β-oxidation of very long chain fatty acids (VLCFAs). The deficiency of this peroxisomal enzyme leads to the accumulation of VLCFAs,...
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A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy

Jeong IH, An GD, Lim HH, Woo KS, Kim KH, Kim JM, Lee JH, Han JY

No abstract available.
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Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation

Bae JY, Kim DY, Kwon YD, Song YH, Lim HH, Park HD, Lim JW

Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH...
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A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family

Kim YM, Lim HH, Gang MH, Lee YW, Kim SZ, Kim GH, Yoo HW, Ko JM, Chang M

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier...
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Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]

Gang MH, Lee YW, Lim HH, Chang MY

Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome...
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Gender affirmative care of transgender people: a single center's experience in Korea

Lim HH, Jang YH, Choi GY, Lee JJ, Lee ES

OBJECTIVE: To investigate the clinical characteristics and medical management of transgender people in South Korea. METHODS: The electronic medical records of 54 transgender persons who had visited Soonchunhyang University Hospital from...
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Platelet Function Analyzer-200 P2Y Results Are Predictive of the Risk of Major Adverse Cardiac Events in Korean Patients Receiving Clopidogrel Therapy Following Acute Coronary Syndrome

Lim HH, Li S, An GD, Woo KS, Kim KH, Kim JM, Kim MH, Han JY

BACKGROUND: Clopidogrel is one of the most commonly used anti-platelet agents in cardiovascular diseases. We analyzed the relationship between the platelet function analyzer (PFA)-200 P2Y (INNOVANCE PFA-200 System, Siemens Healthcare,...
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Analysis for the Cause of Inadequate Specimens in Blood Bank: A Single Center Study

Lim HH, Jeong GC, Kim KH

No abstract available.
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Acute Hemolytic Transfusion Reaction due to ABO-Incompatible Blood Transfusion: A Fatal Case Report and Review of the Literature

Lim HH, Kim KH, An GD, Jeong IH, Son YK

A 77-year-old female patient who was suspected to have had an acute hemolytic transfusion reaction was admitted to the emergency room. She received one unit of type A red blood...
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Analytical Performance of New ARCHITECT AFP Assay: Comparison with the Current Assay

Woo KS, An GD, Lim HH, Han JY

Alpha-fetoprotein (AFP) is frequently used for hepatocellular carcinoma (HCC) diagnosis and surveillance. Although the current ARCHITECT AFP (List number 7K67) assay range is 0–350 ng/mL, all samples with test results...
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Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

Kim YM, Cheon CK, Lim HH, Yoo HW

Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also...
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Difference in Characteristics in the Formation of Anti-E and Anti-E/-c in Patients with the CDe Phenotype

An GD, Kim KH, Lim HH, Jeong IH

BACKGROUND: Anti-E or paired anti-E/-c antibodies can develop in patients with the Rh CDe phenotype. This study examined the differences in transfusion in patients with the CDe phenotype according to...
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A Case of Bone Marrow Necrosis in B-Acute Lymphoblastic Leukemia with Philadelphia Chromosome at Presentation

Jeong IH, An GD, Lim HH, Woo KS, Kim KH, Kim JM, Lee JH, Han JY

Bone marrow necrosis (BMN) is a pathologic state which is derived from various disease entities. Most commonly, it is accompanied by hematologic malignancies such as acute leukemia. The patients with...
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Comparison of Interferon-gamma Secretion by Stimulated NK Cells and T cells from Healthy Subjects

An GD, Kim KH, Lim HH, Kim MC, Lee SY

Interferon-γ (IFN-γ) is an important cytokine produced by natural killer (NK) cells and T cells in response to various stimuli. The levels of IFN-γ secreted after stimulation of NK cells...
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A Case with Changes in Autoantibodies with Mimicking Specificity in a Patient with Hepatocellular Carcinoma

Lim HH, Kim KH, Jeong GC, An GD, Woo KS, Han JY, Kim JM

Changes in autoantibodies with mimicking specificity for Rh antigens are quite rare. Here, we report a 73-year-old male patient with hepatocellular carcinoma that showed changes in the autoantibodies with mimicking...
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Revisiting the Pre-transfusion Test: A Case of Acute Hemolytic Transfusion Reaction due to Multiple Alloantibodies of Anti-E, Anti-c, Anti-Jk(b)

An GD, Kim KH, Jeong IH, Lim HH, Woo KS, Han JY, Kim JM, Jeong JH, Son YK

We report a case of acute hemolytic transfusion reaction due to multiple alloantibodies. A 41-year-old male with multiple histories of transfusion was admitted for jaundice and oliguria after receiving two...
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