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Neuronal Ceroid Lipofuscinoses in Children

Mahesh Kamate1, Narendranadha Reddy2, Mayank Detroja3

  • 1Division of Pediatric Neurology and In-Charge Child Development Clinic, Department of Pediatrics, KAHER's J N Medical College, Belgaum, Karnataka, India.

Annals of Indian Academy of Neurology
|July 5, 2021
PubMed
Summary

Neuronal ceroid lipofuscinoses (NCL) are not uncommon in Indian children, with CLN2 being the most frequent type. Early diagnosis through clinical, imaging, and genetic testing is crucial for managing this neurodegenerative disorder.

Keywords:
Enzyme assayneuroimagingneuronal ceroid lipofuscinosesnext-generation sequencing

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