Gangliosides are the main glycolipids of neuronal plasma membranes. Their surface
patterns are generated by coordinated processes, involving biosynthetic pathways of the …

Outlines the major features of the diseases known to cause progressive myoclonus epilepsy
and discusses a clinical approach to diagnosis. The 5 major conditions that account for the …

• Recent research on schizophrenia has demonstrated that in this disorder the brain is not,
strictly speaking, normal. The findings suggest that nonspecific histopathology exists in the …

Renal failure is relatively common, but except in association with spina bifida or paraplegia it
is unlikely to occur as a result of disease of the CNS. Renal failure, however, commonly …

Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by deficiency
of the enzyme arylsulfatase A (ARSA). MLD is characterized by progressive demyelination …

Inborn errors of metabolism are individually rare, but collectively numerous. As a whole, they
cannot be recognized through systematic neonatal screening tests, which are too slow, too …

Abstract Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal
storage disorder, caused by a deficiency in one of the four enzymes involved in the …

Objective—To explore what lies behind repeated emergency department (ED) use, from the
patients' own perspectives. Methods—Qualitative study based on in depth interviews with …

Fabry disease is an X-linked recessive disease with a reduction of lysosomal α
galactosidase A and consecutive storage of glycolipids eg, in the brain, kidney, skin, and …

Background: Peripheral neuropathy in Fabry disease predominantly involves small nerve
fibers. Recently, enzyme replacement therapy (ERT) with recombinant human α …