- Case Report
- A Case of Type Ⅰ Glanzmann's Thrombasthenia Diagnosed by Flow Cytometry
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Mun Su Lee, Choong Ho Shin, Kyu Young Kim, Dong Woo Son, Hwa Ryung Chung, Do Hyun Kim
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Clin Exp Pediatr. 1999;42(1):133-137. Published online January 15, 1999
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Glanzmann's thrombasthenia is a rare autosomal recessive hemorrhagic disorder of platelet function with missing or abnormal platelet plasma membrane glycoprotein Ⅱb-Ⅲa, which functions as a receptor for fibrinogen. We have experienced a case of thrombasthenia in a 6-year-old female whose chief complaints were easy bruising, frequent epistaxis, arthralgia and swelling of the right ankle joint. Bleeding time was prolonged in... |
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- Pena-Shokeir I Syndrome in a Newbonrn Infant
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Myung Gil Han, Kyu Young Kim, Dong Woo Son, Bo Young Yoon, Kyung Hee Park, Do Hyun Kim, Hyung Ro Moon
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Clin Exp Pediatr. 1997;40(5):721-725. Published online May 15, 1997
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Pena-Shokeir I syndrome is a multiple malformation syndrome displaying characteristics of camptodactyly, multiple ankylosis, severe muscle weakness, facial anomalies (low set ears, hypertelorism, depressed tip of nose), polyhydramnios, fetal growth retardation & pulmonary hypoplasia which are inherited by autosomal recessive trait.
We experienced 1 case of Pena-Shokeir I syndrome in a neonate (41 weeks, 2.08Kg). This patient suffered from dyspnea. Respiratory... |
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- Recurrent Hematuria due to Renal Hypouricemia
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Kyu Young Kim, Il Soo Ha, Hae Il Cheong, Yong Choi
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Clin Exp Pediatr. 1995;38(1):129-132. Published online January 15, 1995
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A marked low concentration of serum uric acid(0.7-1.2mg/dl) was detected in a 14-year-old boy with recurrent episodes of gross hematuria. The hypouricemia accompanied with a markedly increased urinary clearance of uric acid (32.6-56.0ml/min), which was only minimally changed after both the administration of pyrazinamide, and inhibitor of the renal tubular secretion of uric acid, and the administration of probenecid, and... |
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