Lipid storage diseases: biochemical diagnosis

G. Tettamanti, A. Lombardo, S. Marchesini, A. Giuliani, B. Berra, S. Di Donato, M. Rimoldi, B. Bertagnolio

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)45-60
Number of pages16
JournalBiochemistry and Experimental Biology
Volume13
Issue number1
Publication statusPublished - 1977

ASJC Scopus subject areas

  • Medicine(all)

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