Temat: "Refsum Disease, Infantile" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Autorzy:: Zeharia A; Day Hospitalization Unit, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petach Tikvah, Israel.
Ebberink MS; Departments of Clinical Chemistry and Pediatrics, Academic Medical Centre, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Wanders RJA; Departments of Clinical Chemistry and Pediatrics, Academic Medical Centre, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Waterham HR; Departments of Clinical Chemistry and Pediatrics, Academic Medical Centre, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Gutman A; Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Nissenkorn A; Pediatric Neurology Unit, Safra Children's Hosptial, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Tel Hashomer, Israel.
Korman SH; Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. .; Metabolic Diseases Unit, Division of Pediatrics, Hadassah-Hebrew University Medical Center, POB 12000, Jerusalem, Israel. .; Pokaż więcej
Źródło:: Journal of human genetics [J Hum Genet] 2007; Vol. 52 (7), pp. 599-606. Date of Electronic Publication: 2007 May 30.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Mosaicism*
Catalase/*metabolism
Fibroblasts/*chemistry
Fibroblasts/*metabolism
Membrane Proteins/*genetics
Peroxisomes/*genetics
Peroxisomes/*metabolism
Refsum Disease, Infantile/*genetics
Catalase/chemistry ; Catalase/genetics ; Cells, Cultured ; Child, Preschool ; Cholestasis/genetics ; Cholestasis/pathology ; Fibroblasts/pathology ; Fluorescent Antibody Technique ; Hot Temperature ; Humans ; Infant ; Infant, Newborn ; Male ; Peroxisomes/pathology ; Phenotype ; Refsum Disease, Infantile/enzymology ; Refsum Disease, Infantile/metabolism

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Skocz do pozycji: 2.

Tytuł:: Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).
Autorzy:: Warren M; a Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine , University of Southern California , Los Angeles , California , USA.
Mierau G; b Department of Pathology , Children's Hospital Colorado , Aurora , Colorado , USA.
Wartchow EP; b Department of Pathology , Children's Hospital Colorado , Aurora , Colorado , USA.
Shimada H; a Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine , University of Southern California , Los Angeles , California , USA.
Yano S; c Genetics Division, Department of Pediatrics, Keck School of Medicine , University of Southern California , Los Angeles , California , USA.; Pokaż więcej
Źródło:: Ultrastructural pathology [Ultrastruct Pathol] 2018 May-Jun; Vol. 42 (3), pp. 220-227. Date of Electronic Publication: 2018 Feb 26.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Liver/*pathology
Liver/*ultrastructure
Refsum Disease, Infantile/*pathology
Zellweger Syndrome/*pathology
Adolescent ; Humans ; Male ; Microscopy, Electron, Transmission

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Skocz do pozycji: 3.

Tytuł:: The Δ4-desaturation pathway for DHA biosynthesis is operative in the human species: differences between normal controls and children with the Zellweger syndrome.
Autorzy:: Martinez M; Manuela Martinez Foundation for Children with Metabolic Diseases, Research Laboratory, Plaza Karl Marx 1, Barcelona 08042, Spain. />Ichaso N
Setien F
Durany N
Qiu X
Roesler W; Pokaż więcej
Źródło:: Lipids in health and disease [Lipids Health Dis] 2010 Sep 09; Vol. 9, pp. 98. Date of Electronic Publication: 2010 Sep 09.
Typ publikacji:: Journal Article
MeSH Terms:: Docosahexaenoic Acids/*metabolism
Fatty Acid Desaturases/*genetics
Fatty Acid Desaturases/*metabolism
Zellweger Syndrome/*metabolism
Cell Line, Transformed ; Cell Transformation, Viral ; Fatty Acids/metabolism ; Fatty Acids, Essential/deficiency ; Fatty Acids, Essential/metabolism ; Fatty Acids, Omega-6/metabolism ; Fungi/genetics ; Gene Library ; Genes, Fungal ; Genetic Therapy ; Humans ; Infant ; Lymphocytes/cytology ; Lymphocytes/metabolism ; Peroxisomal Disorders/therapy ; Recombinant Fusion Proteins/biosynthesis ; Refsum Disease, Infantile/therapy ; Substrate Specificity ; Transfection ; Zellweger Syndrome/genetics ; Zellweger Syndrome/therapy

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