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Urological Problems in Patients with Menkes Disease

Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI

BACKGROUND: Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue...
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Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

Shim JO, Yang HR, Moon JS, Chang JY, Ko JS, Park SS, Seo JK

BACKGROUND: Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful...
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The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria

Khan S, Schilsky M, Silber G, Morgenstern B, Miloh T

The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal...
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Performance Evaluation of the VISTA 500

Ko DH, Cho EJ, Lee W, Chun S, Min WK

In this study, we evaluated the performance of a recently developed immunoassay analyser, the VISTA 500 (Siemens, Germany). Precision, linearity, and comparison studies were performed according to the Clinical and...
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Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease

Kim JA, Kim HJ, Cho JM, Oh SH, Lee BH, Kim GH, Choi JH, Kim KM, Yoo HW

PURPOSE: Measurement of serum ceruloplasmin level is the first step in screening for Wilson's disease (WD). Despite the rarity of WD in the general population, ceruloplasmin levels are routinely measured...
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Wilson's Disease in Bangladeshi Children: Analysis of 100 Cases

Rukunuzzaman M

PURPOSE: To evaluate clinical and laboratory profile of Wilson's disease (WD) in children. METHODS: This cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University Hospital. Bangladesh, over a period...
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Serum Ceruloplasmin Level as a Predictor for the Progression of Diabetic Nephropathy in Korean Men with Type 2 Diabetes Mellitus

Lee MJ, Jung CH, Kang YM, Jang JE, Leem J, Park JY, Lee WJ

BACKGROUND: Oxidative stress is known to be associated with progression of diabetic kidney disease. Ceruloplasmin acts as a pro-oxidant under conditions of severe oxidative stress. Thus, we conducted a longitudinal...
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Proteomic Analysis of Serum from Patients with Major Depressive Disorder to Compare Their Depressive and Remission Statuses

Lee J, Joo EJ, Lim HJ, Park JM, Lee KY, Park A, Seok A, Lee H, Kang HG

OBJECTIVE: Currently, there are a few biological markers to aid in the diagnosis and treatment of depression. However, it is not sufficient for diagnosis. We attempted to identify differentially expressed...
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Fracture in a Young Male Patient Leading to the Diagnosis of Wilson's Disease: A Case Report

Shin JJ, Lee JP, Rah JH

Wilson's disease is a rare genetic disorder that has abnormal copper metabolism. Although the disease's main problems are found in liver and brain, some studies revealed manifestation of various musculoskeletal...
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A Ferroxidase, Cfo1, Regulates Diverse Environmental Stress Responses of Cryptococcus neoformans through the HOG Pathway

Lee KT, Lee JW, Lee D, Jung WH, Bahn YS

  • KMID: 2312738
  • Mycobiology.
  • 2014 Jun;42(2):152-157.
The iron uptake and utilization pathways play a critical role in allowing human pathogens, including Cryptococcus neoformans, the causative agent of fatal meningoencephalitis, to survive within the mammalian body by...
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A Case of Toxic Hepatitis by Weight-Loss Herbal Supplement Containing Garcinia cambogia

Lee JL, Shin HP, Jeon JW, Cha JM, Joo KR, Lee JI

We report a case of patient with acute toxic hepatitis induced by weight-loss herbal supplement. A patient took natural extract supplement containing Garcinia cambogia for only two days and visited...
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Beneficial Antioxidative and Antiperoxidative Effect of Cinnamaldehyde Protect Streptozotocin-Induced Pancreatic beta-Cells Damage in Wistar Rats

Subash-Babu P, Alshatwi A, Ignacimuthu S

  • KMID: 2048330
  • Biomol Ther.
  • 2014 Jan;22(1):47-54.
The present study was aimed to evaluate the antioxidant defense system of cinnamaldehyde in normal, diabetic rats and its possible protection of pancreatic beta-cells against its gradual loss under diabetic...
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Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis

Seo JK

  • KMID: 2315342
  • Pediatr Gastroenterol Hepatol Nutr.
  • 2012 Dec;15(4):197-209.
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism that results in accumulation of copper primarily in the liver, brain and cornea. Mutations in the WD gene, ATP7B,...
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Liver Dysfunction due to Hepatic Glycogenosis in a Girl with Type 1 Diabetes

Chung IH, Jeong SJ, Cho YA, Kim GI, Yoo EG

  • KMID: 2322015
  • J Korean Soc Pediatr Endocrinol.
  • 2009 Dec;14(2):174-178.
Hepatic glycogenosis is an under-recognized cause of hepatomegaly and elevated serum aminotransferase levels in patients with type 1 diabetes; further, most cases of hepatic glycogenosis are reported to be associated...
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Plasma proteomic analysis of patients with squamous cell carcinoma of the uterine cervix

Jeong DH, Kim HK, Prince AE, Lee DS, Kim YN, Han J, Kim KT

OBJECTIVE: To compare plasma protein expression between patients with squamous cell carcinoma (SCC) of the cervix and normal controls. METHODS: Plasma samples from patients with benign gynecological disease (normal cervix,...
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Effect of Amino Acids and Albumin on Damage Induced by Cyanate in Osteoblast

Park KD, Park SB, Choi HJ, Mun KC, Kim HC

  • KMID: 2079744
  • Korean J Nephrol.
  • 2007 Jul;26(4):404-413.
PURPOSE: Cyanate, known as one of the uremic toxins and derived spontaneously from urea, has several effects on the biologic substances including erythropoietin, antioxidant and ceruloplasmin. To find out the...
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Application of experion(TM) assay system for discovery of ovarian cancer serum biomarkers

Min HJ, Bae SM, Kwak SY, Yang MA, Lee HN, Kim YW, Shin JC, Kim JS, Nam KH, Kim YW, Ahn WS

  • KMID: 2273131
  • Korean J Obstet Gynecol.
  • 2007 May;50(5):751-759.
OBJECTIVE: The discovery of new biomarkers for ovarian cancer is clearly necessary for the detection and monitoring of the disease. Experion(TM) automated electrophoresis system can be employed in the identification...
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3-year Follow-up of a Menkes Disease Patient

You JH, Paek H, Jung K, Sun GK, Yoo HW, Kim KS, Kim YW, Kim EY

  • KMID: 1528187
  • J Korean Child Neurol Soc.
  • 2007 May;15(1):94-101.
Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration,...
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A Case of Menkes disease with Infantile Spasm

Ahn SH, Park SY, Kang SG, Lee JE, Kwon YS, Son BK, Yoo HW

  • KMID: 2329520
  • J Korean Child Neurol Soc.
  • 2007 Nov;15(2):199-204.
Menkes disease, so called kinky-hair syndrome, is a rare, genetic and progressive neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper transporting...
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Dietary Copper Intakes and Nutritional Status of Copper in Serum among Elementary Schoolchildren in Chungnam Province in Korea: Comparison between Remote Rural and Urban Areas

Kim SH

  • KMID: 2269987
  • Korean J Nutr.
  • 2006 Jun;39(4):381-391.
This study is performed to compare the dietary intakes and food sources of copper (Cu) using the database of Cu content developed in this study between the elementary schoolchildren in...
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