𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis

✍ Scribed by Taschner, Peter E. M. ;de Vos, Nanneke ;Catsman-Berrevoets, Coriene E. ;van Duinen, Sjoerd G. ;Lindhout, Dick ;Breuning, Martijn H.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
692 KB
Volume
57
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Perspective of biochemical research in t
✍ Rider, J. Alfred ;Dawson, Glyn ;Siakotos, Aristotle N. πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 659 KB

## Abstract The search for biochemical abnormalities in the neuronal ceroid‐lipofuscinoses (NCL) or Batten disease was initiated with the discovery of normal levels of gangliosides in juvenile amaurotic idiocy. The primary goal of most biochemical studies has been to discover the unique biochemical

Neuronal ceroid lipofuscinosis (nclf), a
✍ Bronson, Roderick T.; Donahue, Leah Rae; Johnson, Kenneth R.; Tanner, Allison; L πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 74 KB πŸ‘ 2 views

The neuronal ceroid lipofuscinoses (NCLs) comprise a set of at least 6 distinct human and an unknown number of animal diseases characterized by storage of proteolipids in lysosomes of many cell types. By unknown mechanisms, this accumulation leads to or is associated with severe neuronal and retinal

Retention of lysosomal protein CLN5 in t
✍ Anne-HΓ©lΓ¨ne Lebrun; Stephan Storch; Franz RΓΌschendorf; Mia-Lisa Schmiedt; Aija K πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 390 KB

The neuronal ceroid lipofuscinoses (NCLs) form a group of autosomal recessively inherited neurodegenerative disorders that mainly affect children. Ten NCL forms can be distinguished by age at onset, clinicopathologic features, and genetics. In eight of these forms, the underlying genes have been ide