Laboratory Detection of Metabolic Disease
1989; Elsevier BV; Volume: 36; Issue: 1 Linguagem: Inglês
10.1016/s0031-3955(16)36616-0
ISSN1557-8240
AutoresDerek A. Applegarth, James E. Dimmick, Jennifer R. Toone,
Tópico(s)Biochemical and Molecular Research
ResumoClinical findings that suggest an inherited metabolic disease are presented for diseases that involve enzyme defects in the catabolism of small and large molecules. Biochemical and histopathologic tests are suggested to investigate and diagnose inherited metabolic disorders. Identification of the enzyme deficiencies may lead to specific treatment and allows appropriate genetic counseling of the family.
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