ISSN:
1612-1112
Keywords:
Capillary GC-MS
;
Methylmalonic acid
;
Metabolic diseases
;
GC-MS
;
Stable isotopes
Source:
Springer Online Journal Archives 1860-2000
Topics:
Chemistry and Pharmacology
Notes:
Summary Because methylmalonic acid (MMA) accumulates in the body fluids of patients suffering from inherited metabolic disorders involving its pathway, the quantitation of this metabolite is not only fundamental to diagnosis but is also important in the follow-up of affected patients under treatment. We describe the method set up and used in our laboratory for the measurement of MMA in body fluids and propose its application to plasma as the reference method for the biochemical diagnosis and follow-up of methylmalonic acidaemias.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02263866
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