Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially
during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most …

Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its
relative rarity implies that no metabolic centre has experience of large series of patients and …

Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its
relative rarity implies that no metabolic centre has experience of large series of patients and …

Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore,
no metabolic centre has experience of large numbers of patients. To document outcome, to …

Hartnup disorder, an autosomal recessive defect named after an English family described in
1956 (ref.), results from impaired transport of neutral amino acids across epithelial cells in …

Several initiatives at establishing a classification of inherited metabolic disorders have been
published previously, some focusing on pathomechanisms, others on clinical …

Objective: To investigate the incidence, the severity, and the course of neutropenia,
neutrophil dysfunction, and inflammatory bowel disease (IBD) in glycogen storage disease …

We report on three patients (two siblings and one unrelated) presenting in infancy with
progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a …

Purpose: This study investigated whole-exome sequencing (WES) yield in a subset of
intellectually disabled patients referred to our clinical diagnostic center and calculated the …

Background Peroxisomes are organelles that proliferate continuously and play an
indispensable role in human metabolism. Consequently, peroxisomal gene defects can …