The guidelines for biochemical diagnosis of lipid storage diseases are defined and progress in this field is discussed. A number of techniques have been adapted for routine work, this favouring the introduction of this diagnostic practice in ordinary clinical chemistry laboratories. Many problems are still open and improvements are urgently needed specially regarding detection of heterozygous carriers, prenatal diagnosis and elucidation of the molecular basis of other metabolic disorders. This is a stimulating opportunity for strict collaboration between biochemists and clinicians.
|Number of pages||16|
|Journal||Biochemistry and Experimental Biology|
|Publication status||Published - 1977|
ASJC Scopus subject areas