[Comparative ultrastructural investigations of livers in mucopolysaccharidoses and mucolipidoses (author's transl)].
1971
S Blümcke, and
F Freitag, and
J Spranger
UI
MeSH Term
Description
Entries
D008052
Lipid Metabolism, Inborn Errors
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
Lipid Metabolism, Inborn Error
D008064
Lipidoses
Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.
Lipidosis,Lipoidosis
D008099
Liver
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
Livers
D008854
Microscopy, Electron
Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.
Electron Microscopy
D009083
Mucopolysaccharidoses
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Mucopolysaccharidosis
D005696
Galactosidases
A family of galactoside hydrolases that hydrolyze compounds with an O-galactosyl linkage. EC 3.2.1.-.
Galactosidase
D006017
Glycolipids
Any compound containing one or more monosaccharide residues bound by a glycosidic linkage to a hydrophobic moiety such as an acylglycerol (see GLYCERIDES), a sphingoid, a ceramide (CERAMIDES) (N-acylsphingoid) or a prenyl phosphate. (From IUPAC's webpage)
Glycolipid
D006801
Humans
Members of the species Homo sapiens.
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001706
Biopsy
Removal and pathologic examination of specimens from the living body.