Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots

Autor: Allard, Pierre ^*, Grenier, André, Korson, Mark S., Zytkovicz, Thomas H.

Publikováno v: In Clinical Biochemistry 2004 37(11):1010-1015

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

Autor: Lee, Brendan, Diaz, George A, Rhead, William, Lichter-Konecki, Uta, Feigenbaum, Annette, Berry, Susan A, Le Mons, Cindy, Bartley, James A, Longo, Nicola, Nagamani, Sandesh C, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, J Lawrence, Schulze, Andreas, Vockley, Jerry, Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, Douglas A, Marino, Miguel, Coakley, Dion F, Mokhtarani, Masoud, UCD Consortium, Scharschmidt, Bruce F

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine : official journal of the American College of Medical Genetics, vol 17, iss 7

PurposeThe aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle disorders.MethodsThe relationships between fasting ammonia, daily ammonia exposure, and hyperammonemic crises were analyz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc91f49be74bc5022b22e4dc57c48988
http://europepmc.org/articles/PMC4465427

A GC/MS/MS screening method for multiple organic acidemias from urine specimens

Autor: Hagen, Thilo ^*, Korson, Mark S., Sakamoto, Masayuki, Evans, James E.

Publikováno v: In Clinica Chimica Acta 1999 283(1):77-88

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