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Fabry Cardiomyopathy

Yoon JY, Song JH, Cheon SS, Cho HJ, Bae MH, Lee JH, Yang DH, Park HS, Cho Y, Chae SC

Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the alpha-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to...
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The roles of glycosphingolipids in the proliferation and neural differentiation of mouse embryonic stem cells

Jung JU, Ko K, Lee DH, Ko K, Chang KT, Choo YK

Glycosphingolipids including gangliosides play important regulatory roles in cell proliferation and differentiation. UDP-glucose:ceramide glucosyltransferase (Ugcg) catalyze the initial step in glycosphingolipids biosynthesis pathway. In this study, Ugcg expression was reduced...
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Glycosphingolipid Modification: Structural Diversity, Functional and Mechanistic Integration of Diabetes

Yamashita

Glycosphingolipids (GSLs) are present in all mammalian cell plasma membranes and intracellular membrane structures. They are especially concentrated in plasma membrane lipid domains that are specialized for cell signaling. Plasma...
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A 10-year-old Boy with Microscopic Hematuria and Renal Biopsy Findings Mimicking Fabry Disease

Chung WY, Kang MS

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A, resulting in the accumulation of glycosphingolipids within the lysosomes of various cell types....
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CD57 (Leu-7, HNK-1) immunoreactivity seen in thin arteries in the human fetal lung

Ishizuka S, Jin ZW, Yamamoto M, Murakami G, Takayama T, Hayashi K, Abe SI

CD57 (synonyms: Leu-7, HNK-1) is a well-known marker of nerve elements including the conductive system of the heart, as well as natural killer cells. In lung specimens from 12 human...
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A Case of Renal Transplantation in A Patient with Fabry's Disease

Kim W, Koh HW, Park SK, Kang SK, Rhee SR, Yu HC, Cho BH, Kim MC, Lee KY

  • KMID: 2324256
  • J Korean Soc Transplant.
  • 1998 Jun;12(1):111-116.
Fabry's disease is a rare, inborn error, sex-linked disorder of glycosphingolipid metabolism with death occurring from myocardial or renal involvement at 4th or 5th decades. The primary metabolic defect lies...
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A Case of Fabry Disease, Following Renal Biopsy for the Investigation of Proteinuria

Ok JU, Choi KH, Oh J, Kwon KH, Yang DH, Kim KS, Lee YH

  • KMID: 2079211
  • Korean J Nephrol.
  • 2001 Nov;20(6):1053-1057.
Fabry disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive deposition of...
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A Novel Mutation in Exon 6 in a Patient with Fabry's Disease

Kim JH, Lee JK, Yim SB, Khang SK, Kim KK

  • KMID: 2066191
  • J Korean Neurol Assoc.
  • 1999 Sep;17(5):730-734.
Fabry's disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive intracellular deposition...
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Effect of Oxidized LDL on the Amount of Insulin Receptor and Gi-proteins in the Caveolae of Bovine Aortic Endothelial Cells (BAEC)

Jeon SY, Son HS, Lee JM, Moon SD, Yoon KH, Cha BY, Lee KW, Son HY, Kang SK

  • KMID: 2010071
  • J Korean Diabetes Assoc.
  • 2001 Feb;25(1):71-82.
BACKGROUND AND AIMS: Oxidized LDL (ox-LDL) may induce endothelial cell dysfunction and suggested to have an association with atherosclerosis or insulin resistance. Several studies have shown that ox-LDL inhibits signaling...
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Production of nitric oxide by murine macrophages induced by lipophosphoglycan of Leishmania major

Kavoosi G, Ardestani , Kariminia , Tavakoli Z

Protozoan parasites of the genus Leishmania cause a number of important human diseases. One of the key determinants of parasite infectivity and survival is the surface glycoconjugate lipophosphoglycan (LPG). In...
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