… confounding factors that can alter biomarkers in the absence of inborn errors of metabolism
Offers guidance on how to distinguish acquired causes from inborn errors of metabolism …

There are many different genetic diseases called inborn errors of metabolism (IEM) which
result from defective enzymes in the metabolic pathway. As a result, these defects either cause …

… Due to huge overlap of clinical manifestations and biochemical findings in neurogenetic and
inborn errors of metabolism, clinical and biochemical evaluations are inconclusive in many …

… HFE-associated hemochromatosis is an inborn error of iron metabolism characterized by
excessive iron storage resulting in tissue and organ damage. It is the most common autosomal …

… This review highlights certain recent developments in the field of human inborn errors which
are of interest to neurologists. Several excellent and more extensive surveys of inherited …

… As such, parenchymal liver cells (ie hepatocytes) constitute a key target for therapeutic
strategies aimed at correction of inborn errors of metabolism. Over the past decades, several …

… whether a drug provides clinically meaningful treatment benefit for patients. … Inborn Errors
of Metabolism.” Topics covered included special challenges of clinical studies of inborn errors …

… Clinically these disorders are often overlooked because symptomatology is highly aspecific.
The growth in our knowledge concerning inborn errors of pyrimidine degradation has …

… The aim of this article is to give an overview of the clinical spectrum of pre- and neonatal
manifestations of inborn errors of metabolism. With this presentation, we like to draw attention to …

… Inborn errors of metabolism (IEM) result from the absence or deficiency of an intrinsic
component of a metabolic pathway, often an enzyme, which disrupts cellular function due to …