- Case Report
- Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
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Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee
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Clin Exp Pediatr. 2014;57(5):240-244. Published online May 31, 2014
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Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly... |
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- Original Article
- Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients
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Hee Jeong Cheong, Hye Rim Kim, Seong Soo Lee, Eun Joo Bae, Won Il Park, Hong Jin Lee, Hui Chul Choi
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Clin Exp Pediatr. 2009;52(2):199-204. Published online February 15, 2009
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Purpose : Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with complex febrile seizures, using analyses of urine organic acids.
Method : We retrospectively analyzed and compared the results of urine organic acid analysis with routine laboratory findings in 278... |
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