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Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

Lee SY, Lee HJ, Kim SH, Jeong YJ, Jin HK, Bae JS, Cheon SM, Kim JW

Niemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1)...
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Schistosoma mansoni-Related Hepatosplenic Morbidity in Adult Population on Kome Island, Sengerema District, Tanzania

Kaatano GM, Min DY, Siza JE, Yong TS, Chai JY, Ko Y, Chang SY, Changalucha JM, Eom KS, Rim HJ

Schistosomiasis is one of the important neglected tropical diseases (NTDs) in Tanzania, particularly in Lake Victoria zone. This baseline survey was a part of the main study of integrated control...
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Congenital leukemia of fetus with acquired AML1 gene duplication

Kang SY, Lee YJ, Park KH, Jun SE, Kim SC, Joo JK, Kim IS, Lee EY

Congenital leukemia is very rare, and its prevalence according to recently published papers is from 1 to 5 per million live births. This can be often diagnosed in postpartum throughout...
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Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

Kim GJ, Lee ES

We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly...
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Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly

Jeong MH, Ko JM, Kim GH, Yoo HW

  • KMID: 2288524
  • J Genet Med.
  • 2007 Dec;4(2):200-203.
Niemann-Pick type C is an inborn error of metabolism that affects lipid degradation and storage, which is characterized by hepatosplenomegaly and progressive neurological symptoms. A 7-month-old girl with jaundice was...
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A case of Niemann-Pick disease type A

Yu HY, Oh JE, Park JS, Kim MH, Kim SD, Jung KS

Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea....
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A Case of Primary Hepatic Lymphoma Mimicking Hepatitis

Kang KM, Chung WC, Lee KM, Hur SE, Nah JM, Kim GH, Back JY, Kim SK, Yang JM, Choi HJ

  • KMID: 760611
  • Korean J Hepatol.
  • 2005 Sep;11(3):284-288.
We report here on a case of non-Hodgkin's lymphoma in which liver involvement was the predominant clinical manifestation. A healthy 44-year-old man presented with upper abdominal pain, hepatosplenomegaly, thrombocytopenia,...
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A Case of Transient Myeloproliferative Disorder with Down Syndrome, Presented Hepatosplenomegaly on Prenatal Sonography

Lee KH, Park BS, Jeong EH, Son BR, Kim MK, Lim SW, Park HJ

  • KMID: 2188689
  • J Korean Soc Neonatol.
  • 2003 May;10(1):78-82.
Down syndrome (DS) is associated with a higher incidence of leukemia than general population; the subtype is acute megakaryoblastic leukemia (AMKL) in 50% of cases. DS is also strongly associated...
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A Case of Type A Niemann-Pick Disease

Jeon EY, Choi KA, Koo CH, Lee WM, Jeon YS, Lee CH, Suh KS, Lee SK

  • KMID: 2335319
  • J Korean Pediatr Soc.
  • 1998 Feb;41(2):275-280.
Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a...
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The Diagnostic Value of Liver Biopsy in Children with Fever of Unknown Origin and Hepatosplenomegaly

Park SM, Choi YH, Kim JJ, Lee HJ, Seo JK

  • KMID: 2208172
  • J Korean Pediatr Soc.
  • 1996 Nov;39(11):1544-1555.
PURPOSE: Although many strides have been made in the radiological and laboratory diagnosis, the liver biopsy is still considered an important tool for the diagnosis of liver disease. We report...
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Two cases of Gaucher disease in brother and sister

Kim YJ, Cheong KY, Seo JJ, Rhee KS, Chung YH, Koo SH

  • KMID: 1691716
  • J Korean Pediatr Soc.
  • 1991 Aug;34(8):1151-1156.
No abstract available.
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