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NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY

Known as: CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT, CLN10, Ceroid Lipofuscinosis, Neuronal, 10 
National Institutes of Health

Related topics

Related topics

16 relations
ApneaAtaxiaAutosomal recessive inheritanceCTSD gene

Broader (2)

CATHEPSIN DNeuronal Ceroid-Lipofuscinoses

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
A Short Commentary of Neuronal Ceroid Lipofuscinoses; Phenotypes inCongenital to Preschooler
The classification of neuronal ceroid lipofuscinoses (NCLs) had been clinically divided according to the age at the onset of… 
2014
2014
Lipofuscinosis neuronal ceroidea
Las lipofuscinosis neuronal ceroidea (LNCs) constituyen uno de los grupos de enfermedades neurodegenerativas mas frecuentes en la… 
2012
2012
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
INTRODUCTION The neuronal ceroid lipofuscinosis are classified based on age at onset into four main clinical forms in child-hood… 
2010
2010
Diagnostik und Therapie der neuronalen Zeroidlipofuszinosen aus Sicht des Neuropädiaters
ZusammenfassungNeuronale Zeroidlipofuszinosen (NCL) sind genetisch heterogene lysosomale Erkrankungen mit rasch progredienter… 
2008
2008
Characterization of neuronal neroid lipofuscinosis phenotype in three different cell lines subjected to RNA interference
Neuronal ceroid lipofuscinoses (NCL) are a group of genetically inherited encephalopathies, characterized by accumulation of… 
2007
2007
The CLN10 subtype of neuronal ceroid lipofuscinosis is caused by mutations in the CTSD gene and is associated with a variable age of onset
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