Titlebook: Laboratory Guide to the Methods in Biochemical Genetics; Nenad Blau,Marinius Duran,K. Michael Gibson Book 20081st edition Springer-Verlag

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Amino Acids,ary defects of amino acid catabolism/biosynthesis are known, most of these associated with clinical symptoms. The differential diagnosis of the aminoacidopathies requires the quantitative analysis of not only the 20 physiological amino acids, but also more than 50 unusual amino acids, which may be o

chapel

Euthyroid

persistence

SPER

Acylcarnitines, Including In Vitro Loading Tests, role in all venues of clinical biochemical genetics: prenatal diagnosis, newborn screening, evaluation of symptomatic patients, and postmortem screening. Almost exclusively performed by tandem mass spectrometry (MS/MS), plasma/serum is the primary specimen type in diagnostic settings. Blood dried o

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思鄉(xiāng)病

偏見(jiàn)

Coma704

Glycerol and Glycerol Phosphates,n be detected in urine and blood. Analysis in urine is done by gas chromatography-mass spectrometry as performed for urine organic acid analysis as long as the sample is not treated with an ion exchange procedure. Glycerol in blood is detected by routine clinical chemistry labs. Alternative methods

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