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A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia

Moon SY, Jun IJ, Kim JE, Lee SJ, Kim HK, Yoon SS

No abstract available.
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Bipolar Spectrum: A Review of the Concept and a Vision for the Future

Ghaemi SN

  • KMID: 2316292
  • Psychiatry Investig.
  • 2013 Sep;10(3):218-224.
This paper reviews the bipolar spectrum concept historically and empirically. It describes how the concept derives from Kraepelin, but was lost with DSM-III, which divided the broad manic-depressive illness concept,...
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Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome

Koh JW, Kang SY, Kim GH, Yoo HW, Yu J

X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of...
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Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

Koh JW, Kim GH, Yoo HW, Yu J

Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study...
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Prevalence of Primary Immunodeficiency in Korea

Rhim JW, Kim KH, Kim DS, Kim BS, Kim JS, Kim CH, Kim HM, Park HJ, Pai KS, Son BK, Shin KS, Oh MY, Woo YJ, Yoo Y, Lee KS, Lee KY, Lee CG, Lee JS, Chung EH, Choi EH, Hahn YS, Park HY, Kim JG

This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152...
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X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree

Ryu H, Park J, Chae H, Kim M, Kim Y, Ok IY

Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development...
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A Case of Rheumatoid Arthritis in a Patient with Bruton-Type Agammaglobulinemia

Park DJ, Lee SJ, Kim TJ, Park YW, Bae E, Kang ES, Lee SS

Bruton-type agammaglobulinemia is primary hypogammaglobulinemia followed by severe recurrent infection, including bacterial otitis media, bronchitis, pneumonia, and meningitis. Septic arthritis is a main musculoskeletal disorder that can occur in association...
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Pneumocystis jiroveci Pneumonia in a 5-month-old Boy with Agammaglobulinemia: A Case Report

Chung BH, Nam HK, Rhie YJ, Lee KC, Choung JT, Lim CH, Yoo Y

Pneumocystis jiroveci (P. jiroveci) pneumonia is known as a common opportunistic infection in patients with impaired immunity. Underlying disease or conditions related to the development of P. jiroveci pneumonia include...
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A Case of X-lined Agammaglobulinemia Presenting Recurrent Respiratory Infections

  • KMID: 2090215
  • Korean J Asthma Allergy Clin Immunol.
  • 2011 Mar;31(1):67-71.
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by Bruton's tyrosine kinase (Btk) gene mutation, resulting in the absence or low number of mature B cells, reduced levels of...
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A Case of Rectal Cancer in a Patient with X-linked Agammagloubulinemia

Jeon BJ, Kim SW, Ko KS, Kim SH, Kim IH, Lee SO, Lee ST, Kim DG

  • KMID: 2304731
  • Korean J Gastrointest Endosc.
  • 2010 Dec;41(6):360-363.
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutation of the Bruton tyrosine kinase (BTK) gene. Most of the patients diagnosed X-LA suffer from recurrent infections of...
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A Case of Gastric Adenocarcinoma in a Patient with X-linked Agammaglobulinemia

Ok CS, Lee JH, Noh JW, Sohn SY, Chang BS, Ku BH, Koh WJ, Sung CO

  • KMID: 1494770
  • Korean J Gastrointest Endosc.
  • 2010 Jan;40(1):27-30.
X-linked agammaglobulinemia is a common type of primary immunodeficiency disorder that's caused by mutation of the BTK gene. The absence of B lymphocytes and plasma cells causes recurrent infections. Patients...
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A Case of X-Linked Agammaglobulinemia with Btk Gene Intron 2 Mutation

Chung MJ, Jung JY, Son JY, Ku CR, Park BH, Byun MK, Moon JA, Kim YS, Kim SK, Chang J, Kim SK, Shin DM, Park MS

  • KMID: 2319075
  • Tuberc Respir Dis.
  • 2008 Sep;65(3):207-211.
X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia....
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Identification of a Hemizygous R170H Mutation in the ALAS2 Gene in a Young Male Patient with X-linked Sideroblastic Anemia

Choung HS, Kim HJ, Jung CW, Kim SH

X-linked sideroblastic anemia (XLSA) is a rare hereditary disease characterized by microcytic hypochromic anemia, ineffective erythropoiesis and the presence of numerous ringed sideroblasts in the bone marrow. The causative gene...
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Analysis of Clinical Presentations of Bruton Disease: A Review of 20 Years of Accumulated Data from Pediatric Patients at Severance Hospital

Chun JK, Lee TJ, Song JW, Linton JA, Kim DS

  • KMID: 2396083
  • Yonsei Med J.
  • 2008 Feb;49(1):28-36.
PURPOSE: X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene resulting in defective B cell differentiation. Because it is a...
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X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family

Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW

X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations...
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