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  • 1
    ISSN: 1432-1076
    Keywords: Neuro-visceral storage disease ; Generalized gangliosidosis type II ; Juvenile GM1 gangliosidosis ; Mucolipidosis ; Lysosomes ; Glycosphingolipids ; Mucopolysaccharides ; β-galactosidase deficiency ; Primary progressive degenerative disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Pathological, histochemical and ultrastructural studies on 3 siblings with GM1 gangliosidosis type II are reported. These studies support a biochemical defect with profound deficiency of β-galactosidase which results in widespread accumulation of the GM1 ganglioside and its asialo derivative in brain and to a lesser extent in viscera, as well as in storage of a keratan sulphate-like mucopolysaccharide. Striking valvular changes in the heart without myocardial involvement were seen in all cases. The histochemical and ultrastructural changes are similar to those seen in GM1 gangliosidosis type I, though less severe. Autosomal recessive inheritance without apparent ethnic predilection seems likely.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Storage disease ; Mucopolysaccharidosis ; Mucolipidosis ; Lysosomes ; Glycolipids ; Sphingolipids ; Mucopolysaccharides ; Lysosomal hydrolases ; Neurodegenerative disorders
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Darstellung der klinischen, pathologischen, elektronenoptischen, histochemischen und biochemischen Untersuchungsergebnisse von 4 Patienten mit “I-cell disease” (Mucolipidose II). Charakteristisch sind das Hurler-ähnliche klinische Erscheinungsbild bei normaler Mucopolysaccharidurie und grobkörnige Einschlüsse in gezüchteten Fibroblasten. Pathohistologisch beeindrucken u. a. ausgeprägte Speicherphänomene in Histiocyten. Bei einem Patienten fanden sich in Lunge und Leber eigenartige Lipoidgranulome. Elektronenoptisch zeigten sich intraplasmatische Membransäcke mit polymorphen, teilweise lamellären Einschlüssen. Histochemisch handelte es sich bei den Speichersubstanzen um Glykosphingolipide und andere kohlenhydrathaltige Substanzen. Biochemisch wurden in der Leber vermehrte Mengen verschiedener Glykosphingolipide nachgewiesen, insbesondere Trihexosid-Ceramid und GM3-Gangliosid. Ein Patient speicherte Sulfatid in Leber und grauer Hirnsubstanz. Der “I-cell disease” liegen multiple Defekte lysosomaler Enzyme vorwiegend in Zellen mesenchymaler Herkunft zugrunde. Sie führen zur intracellulären Anhäufung eines bunten Gemischs von Lipiden und kohlenhydrathaltigen Substanzen, u. a. Mucopolysacchariden. Wahrscheinlich verbergen sich unter dem Begriff der “I-cell disease” (Mucolipidose II) mehrere Krankheitsbilder.
    Notes: Abstract Pathological, histochemical, ultrastructural and biochemical studies on 4 cases of I-cell disease are reported. These studies support a lysosomal defect with deficiency of many acid hydrolases and storage of both glycolipids and mucopolysaccharides within lysosomes. The clinical, pathological and biochemical spectra of I-cell disease in these 4 cases suggest three distinct nosologic entities: a prototype, a malignant infantile form and a more benign juvenile type. Consanguinity was present in one of the cases. An autosomal recessive mode of inheritance seems most likely.
    Type of Medium: Electronic Resource
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