Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.

scientific article published on 30 September 2017

Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.25100/CM.V48I3.2180
P932PMC publication ID5687862
P698PubMed publication ID29213153

P50authorCristóbal ColónQ64532843
P2093author name stringMyriam Arévalo-Herrera
Sócrates Herrera
Daisy E Castiñeiras
Jose Angel Cocho
Nora Céspedes
Carlos Alberto Echeverry
Maria Isabel Arce-Plata
Angela Valencia
Paula Margarita Hurtado
P2860cites workIncidence of inborn errors of metabolism in British Columbia, 1969-1996.Q33885321
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implicationsQ34201641
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newbornsQ34272296
Inborn errors of metabolism in infancy and early childhood: an updateQ34568329
The use of mass spectrometry to analyze dried blood spotsQ38253959
Current status of newborn screening worldwide: 2015.Q38483944
Blood spot carnitine and acylcarnitine in newborn to adolescence: measured by tandem mass spectrometryQ40337995
Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia.Q41873494
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.Q43654372
Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective studyQ43684776
Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours.Q44637974
Age-related variations in acylcarnitine and free carnitine concentrations measured by tandem mass spectrometryQ45263649
The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.Q45906892
Improved MS/MS analysis of succinylacetone extracted from dried blood spots when combined with amino acids and acylcarnitine butyl esters.Q45958663
Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction processQ46314752
Newborn screening blood spot analysis in the UK: influence of spot size, punch location and haematocritQ47378592
Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissueQ69802128
Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic diseaseQ71421025
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometryQ73867922
Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometryQ79782291
Newborn screening in Latin America at the beginning of the 21st centuryQ80800970
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programmeQ82035881
[Neonatal screening by tandem mass spectrometry: an update]Q84329366
Short-term stability of amino acids and acylcarnitines in the dried blood spots used to screen newborns for metabolic disordersQ87300459
P433issue3
P304page(s)113-119
P577publication date2017-09-30
P1433published inColombia MédicaQ22671430
P1476titleReference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia
P478volume48

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cites work (P2860)
Q61804983Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry
Q58774196Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center

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