organic aciduria

(1) Organic acidaemia, see there.
(2) Lowe’s oculocerebrorenal syndrome.

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aciduria

References in periodicals archive ?

Among the organic acidurias, the basic defects in d-2hydroxyglutaric aciduria (D-2-HGA), [1] l-2-hydroxyglutaric aciduria (L-2-HGA), and the combined d/l-2-hydroxyglutaric aciduria (D/L-2-HGA) remain mysteries.

The enantiomeric analysis of D- and L-2-HG in urine, plasma, and CSF, in many cases preceded by urinary organic acid analysis, is the only reliable biochemical tool for the diagnosis of these organic acidurias (8).

Because a large number of organic acids are found in urine (3), we selected an homogeneous group of analytes that are specific markers of organic acidurias (2, 4-8) to develop the methodology.

Determination of organic acids by capillary electrophoresis in screening of organic acidurias.

Quantitative determination of short-chain organic acids in urine by capillary electrophoresis

Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation

Little is known about the underlying metabolic and genetic defects that lead to these organic acidurias.

Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride

Urinary bacteria: potential source of some organic acidurias.

Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table

Organic acidurias, although clinically important, are not common, and samples are difficult to obtain.

Capillary electrophoresis for rapid profiling of organic acidurias

Description of the procedure and its application to diagnosis of patients with organic acidurias.

Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy