View from inside: Rare Diseases in the Times of COVID19.
Published in Journal of inherited metabolic disease
Published in Journal of inherited metabolic disease
Published in Journal of inherited metabolic disease
Published in Journal of Inherited Metabolic Disease
Synaptic functions have long been thought to be driven by proteins, especially the SNARE complex, contrasting with a relatively passive role for lipids constituting cell membranes. It is now clear that not only lipids, i.e. glycerophospholipids, sphingolipids and sterols, play a determinant role in the dynamics of synaptic membranes but they also a...
Published in Journal of Inherited Metabolic Disease
Published in Journal of Inherited Metabolic Disease
Published in Journal of Inherited Metabolic Disease
Due to a typesetting error the wrong Table 2 was used. The correct Table 2 is shown here:
Published in Journal of Inherited Metabolic Disease
Mucopolysaccharidosis II (MPS II) is caused by a deficiency of iduronate-2-sulfatase that results in accumulation of glycosaminoglycans (GAG), including heparan sulfate (HS), which is considered to contribute to neuropathology. We examined the efficacy of intracerebroventricular (ICV) enzyme replacement therapy (ERT) of idursulfase-beta (IDS-β) and...
Published in Journal of Inherited Metabolic Disease
Neurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical strategies. The clinical relevance of the presynapse ...
Published in Journal of Inherited Metabolic Disease
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is the most common defect of mitochondrial β-oxidation of long-chain fatty acids. However, the unambiguous diagnosis of true VLCADD patients may be challenging, and a high rate of false positive individuals identified by newborn screening undergo confirmation diagnostics. In this study, we ...
Published in Journal of Inherited Metabolic Disease
Due to a typesetting error the wrong figure 2 was used.