Results 51 to 60 of about 19,497 (183)

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

Study of amino acid disorders among a high risk group of Egyptian infants and children [PDF]

, 2009
Aim of the work: The present work aimed at investigating infants (In neonatal and post neonatal period) and children suspected of having inborn errors of metabolism with unexplained mental retardation.
Eldin, EMB, Elsedfy, HH, Mahmoud, AO, Rashad, M, Shawky, RM   +4 more
core   +1 more source

Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. [PDF]

, 2016
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Angarita, Stephanie Ak, Byrne, James A, Cederbaum, Stephen D, Chang, Katherine M, Gilmore, W Blake, Hermann, Kip, Lam, Alex K, Lee, Patrick C, Lipshutz, Gerald S, Pyle, April D, Schoenberg, Benjamen E, Tang, Jonathan K, Truong, Brian, Vega-Crespo, Agustin, Wininger, Austin E   +14 more
core   +3 more sources

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Fatal Hyperammonemic Brain Injury from Valproic Acid Exposure [PDF]

, 2012
Background: Hyperammonemia is known to cause neuronal injury, and can result from valproic acid exposure. Prompt reduction of elevated ammonia levels may prevent permanent neurological injury.
Bega, Danny, Boland, Torrey Ann, Chou, Sherry Hsiang-Yi, Murray, Michael, Vaitkevicius, Henrikas   +4 more
core   +2 more sources

Quantitation of non-derivatized free amino acids for detecting inborn errors of metabolism by incorporating mixed-mode chromatography with tandem mass spectrometry

Journal of Mass Spectrometry and Advances in the Clinical Lab, 2022
Introduction: Amino acids are critical biomarkers for many inborn errors of metabolism, but amino acid analysis is challenging due to the range of chemical properties inherent in these small molecules.
Patrick D. DeArmond, Dustin R. Bunch
doaj  

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)

BMC Pediatrics, 2019
Background The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI).
F. H. de Bitencourt, I. V. D. Schwartz, F. S. L. Vianna   +2 more
doaj   +1 more source

Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]

, 2009
Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula, Böhles, Hansjosef, Goeters, Christiane, Schulz, Ralf-Joachim, Stein, Jürgen   +4 more
core  

Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

BMC Pediatrics, 2018
Background Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM).
Chi-Ju Yang, Na Wei, Ming Li, Kun Xie, Jian-Qiu Li, Cheng-Gang Huang, Yong-Sheng Xiao, Wen-Hua Liu, Xi-Gui Chen   +8 more
doaj   +1 more source

Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. [PDF]

, 2019
Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders.
Abbeduto, Leonard, Hertz-Picciotto, Irva, Orozco, Jennie Sotelo, Slupsky, Carolyn M   +3 more
core   +1 more source