منابع مشابه
Outcome of organic acidurias in China.
From June 1998 to May 2007, 9566 urine samples were collected from patients with psychomotor deficits, seizures, vomiting and unconsciousness in Peking University First Hospital. Their urine organic acids profiles were analysed using gas chromatography - mass spectrometry (GCMS), GCMS solution and Inborn Errors of Metabolism Screening System software. In all patients, blood acylcarnitines were ...
متن کاملRole of the laboratory in diagnosis of organic acidurias.
Clinical signs and symptoms of organic acidurias are usually subtle and non-specific. Laboratory evaluation, therefore, is usually the only conclusive way to reach a definitive diagnosis. Defects of amino acid catabolism generally caused by diminished activity or complete absence of specific enzymes usually occurs at the later stages of a pathway and results in organic aciduria. Most of these a...
متن کاملCapillary electrophoresis for rapid profiling of organic acidurias.
Organic acids analysis is a powerful technique in the diagnosis of inborn errors of metabolism. Clinically, patients present with severe symptoms, and early detection and appropriate treatment are often lifesaving. Most of the existing methods are based on gas chromatography in combination with mass spectrometry and require sophisticated equipment and complex sample pretreatment and derivatizat...
متن کاملLong-term neurological outcome of a cohort of 80 patients with classical organic acidurias
BACKGROUND Classical organic acidurias including methylmalonic aciduria (MMA), propionic aciduria (PA) and isovaleric aciduria (IVA) are severe inborn errors of the catabolism of branched-chain amino acids and odd-numbered chain fatty acids, presenting with severe complications. METHODS This study investigated the long-term outcome of 80 patients with classical organic aciduria (38 with MMA, ...
متن کاملPositive-ion thermospray liquid chromatography-mass spectrometry: detection of organic acidurias.
Positive-ion thermospray liquid chromatography-mass spectrometry (TSP-LC-MS) is used to detect organic acids via the direct injection of untreated urine from newborns and infants. Two methods are reported for the separation of organic acids. The separation of urinary organic acids is effected in either an acidic, pH 2.5 sulfuric acid, or a non-acidic, 0.05 M ammonium acetate, pH 6.8, mobile pha...
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ژورنال
عنوان ژورنال: Laboratory Medicine
سال: 2000
ISSN: 0007-5027,1943-7730
DOI: 10.1309/qpu5-fb98-9bj4-ju19