<p>The patients are grouped into 1. Wild-types, 2. Individuals with only one mutation found and 3. Homozygous and compound heterozygous newborns. Patients with identical genotypes are grouped in one bar. Homozygotes and compound heterozygotes are shown in black, heterozygotes in shaded and wild-types in white bars. * denotes novel identified missense mutations. Relative residual octanoyl-CoA oxidation activities are presented as a percentage of the mean value of healthy controls ± standard error of the mean (SEM).</p
Several countries include medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, a rare autosomal re...
OBJECTIVE: To describe the clinical, genetic, and biochemical characteristics of short-chain acyl-Co...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare inborn error of mitochondrial fat...
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited dis...
<div><p>Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inher...
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA Co...
SummaryVery–long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial rate-limiting step in mi...
<p>Relative residual octanoyl-CoA oxidation activities are presented as a percentage of the mean val...
Background: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disor...
<p>Case 1 to 18 were identified in NBS, with the exception of 4 and 8.</p>1<p>Relative residual MCAD...
Background: Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency i...
AbstractMedium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochon...
Objective The aim of this study was to determine whether an expanded newborn screening programme, wh...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare inborn error of mitochondrial fat...
INTRODUCTION: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare inborn error of mit...
Several countries include medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, a rare autosomal re...
OBJECTIVE: To describe the clinical, genetic, and biochemical characteristics of short-chain acyl-Co...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare inborn error of mitochondrial fat...
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited dis...
<div><p>Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inher...
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA Co...
SummaryVery–long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial rate-limiting step in mi...
<p>Relative residual octanoyl-CoA oxidation activities are presented as a percentage of the mean val...
Background: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disor...
<p>Case 1 to 18 were identified in NBS, with the exception of 4 and 8.</p>1<p>Relative residual MCAD...
Background: Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency i...
AbstractMedium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochon...
Objective The aim of this study was to determine whether an expanded newborn screening programme, wh...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare inborn error of mitochondrial fat...
INTRODUCTION: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare inborn error of mit...
Several countries include medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, a rare autosomal re...
OBJECTIVE: To describe the clinical, genetic, and biochemical characteristics of short-chain acyl-Co...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an ultra-rare inborn error of mitochondrial fat...