Add to ORKGRisk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA Conclusions: Determination of residual MCAD enzyme activity improves our understanding of variant ACADM genotypes and may contribute to risk stratification. Subjects with variant ACADM genotypes and residual MCAD Touw et al. Orphanet Journal of Rare Diseases 2012, 7:3
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive disorder of β-ox...
The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydroge...
The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in n...
Abstract Background Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) defi...
Background: Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency i...
Background: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disor...
<div><p>Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inher...
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited dis...
AbstractMedium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochon...
The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydroge...
To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) deficie...
With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acy...
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive disorder of β-ox...
The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydroge...
The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in n...
Abstract Background Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) defi...
Background: Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency i...
Background: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disor...
<div><p>Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inher...
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited dis...
AbstractMedium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochon...
The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydroge...
To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) deficie...
With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acy...
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive disorder of β-ox...
The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydroge...
The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in n...