Amino-Acid-Metabolism-Inborn-Errors

Search results for Amino-Acid-Metabolism-Inborn-Errors

Found 184 articles. Showing from 1 to 10.

Annals of clinical biochemistry (2006-01-04)
Reference data for cerebrospinal fluid and the utility of amino acid measurement for the diagnosis of inborn errors of metabolism.

Pediatric endocrinology reviews (2013-01-21)
Newborn screening for inborn errors of metabolism in Japan. A history of the development of newborn screening.

Revista de neurologia (2002-07-22)
[Abnormal antioxidant system in inborn errors of intermediary metabolism]

Clinical biochemistry (2006-06-23)
Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism.

Rapid communications in mass spectrometry (2012-08-13)
Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism.

Clinical biochemistry (2005-11-15)
Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism.

The Turkish journal of pediatrics (2013-05-22)
Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs.

Annals of clinical biochemistry (1988-07-19)
A practical approach to the investigation of amino acid disorders.

Clinical biochemistry (2008-04-15)
Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.

The Journal of pediatrics (2009-03-27)
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

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