Add to ORKGBackground: The expansion of newborn screening pro-grams has increased the number of newborns diag-nosed with inborn errors of metabolism in the pre-symptomatic phase, but it has also increased the number of costly, stress-producing false-positive results. Be-cause propionylcarnitine (C3) is one of the analytes most frequently responsible for false-positive results, we aimed to develop a rapid liquid chromatography– tandem mass spectrometry (LC-MS/MS) method to identify free methylmalonic (MMA) and 3-OH propi-onic (3OH-PA) acids in blood spots. Methods:We studied newborn screening spots from 250 healthy controls; 124 from infants with abnormal C3, of whom only 5 (4%) were truly affected; 124 from infants with altered isolated methylmalonylc...
Background: The clinical course of methylmalonic aciduria ( MMA) is fulminant in neonates and emerge...
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inhe...
PubMedID: 25381946Background: 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal re...
Background: The expansion of newborn screening pro-grams has increased the number of newborns diag-n...
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a g...
Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially s...
Methylmalonic acidemias, a group of heterogeneous dis-orders, are characterized by accumulation of m...
BACKGROUND: 3-Hydroxypalmitoleoyl-carnitine (C16:1-OH) has recently been reported to be elevated in...
olism relies on finding abnormal concentrations ofme-thionine and propionylcarnitine. These analytes...
Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated pro...
BACKGROUND: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs ...
The clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency managemen...
A newborn screening pilot study using tandem mass spectrometry has been set up since 2003. To date m...
Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, ...
BackgroundThe clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency...
Background: The clinical course of methylmalonic aciduria ( MMA) is fulminant in neonates and emerge...
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inhe...
PubMedID: 25381946Background: 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal re...
Background: The expansion of newborn screening pro-grams has increased the number of newborns diag-n...
BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a g...
Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially s...
Methylmalonic acidemias, a group of heterogeneous dis-orders, are characterized by accumulation of m...
BACKGROUND: 3-Hydroxypalmitoleoyl-carnitine (C16:1-OH) has recently been reported to be elevated in...
olism relies on finding abnormal concentrations ofme-thionine and propionylcarnitine. These analytes...
Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated pro...
BACKGROUND: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs ...
The clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency managemen...
A newborn screening pilot study using tandem mass spectrometry has been set up since 2003. To date m...
Neonatal screening (NS) for methylmalonic acidemia uses propionylcarnitine (C3) as a primary index, ...
BackgroundThe clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency...
Background: The clinical course of methylmalonic aciduria ( MMA) is fulminant in neonates and emerge...
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inhe...
PubMedID: 25381946Background: 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal re...