Adrenomyeloneuropathy

Background Selective intestinal cobalamin malabsorption with mild proteinuria (Imerslund‐Gräsbeck syndrome; I‐GS), is an… Expand

BackgroundImerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is… Expand

Axonal degeneration is a main contributor to disability in progressive neurodegenerative diseases in which oxidative stress is… Expand

Peroxisomal disorders are a large group of genetically determined metabolic diseases in which the biogenesis of peroxisomes is… Expand

Selective intestinal malabsorption of vitamin B12 causing juvenile megaloblastic anemia (MGA; MIM# 261100) is a recessively… Expand

The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic… Expand

The syntheses and properties of two calixarene-based fluorescent molecular sensors are reported. These comprise tert-butylcalix[4… Expand

 

Adrenomyeloneuropathy (AMN) is reported in two kindreds. In the first family, four male patients were affected: two adults with… Expand

Fatty acids of cholesterol esters were analyzed by gas chromatography in affected CNS white matter of 3 variants of ALD… Expand