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Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population

✍ Scribed by Carla Teixeira; António Guimarães; Carlos Bessa; Maria José Ferreira; Lurdes Lopes; Eugénia Pinto; Rui Pinto; Rose-Mary Boustany; Maria Clara Sá Miranda; Maria Gil Ribeiro


Book ID
106092244
Publisher
Springer
Year
2003
Tongue
English
Weight
381 KB
Volume
250
Category
Article
ISSN
0340-5354

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📜 SIMILAR VOLUMES


Perspective of biochemical research in t
✍ Rider, J. Alfred ;Dawson, Glyn ;Siakotos, Aristotle N. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 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