Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2/TPP1 gene, leading to a deficiency in tripeptidyl peptidase 1 activity. Enzyme replacement therapy with cerliponase alfa (recombinant human TPP1 [rhTPP1]; Brineura®) was approved in the United States and Europe for the treatment of CLN2 disease in 2017. We retrospectively report a cohort of 19 patients with CLN2 assisted in a specialized center in Argentina, including 8 newly diagnosed cases. Speech disorders and white matter changes/ventricular system enlargement were the most frequent clinical and imaging findings at CLN2 disease onset, respectively. Patients treated with cerliponase alfa p...
La enfermedad CLN8 es uno de los 13 tipos genéticos reconocidos de lipofuscinosis neuronal ceroidea,...
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage di...
Abstract Background Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characteri...
The Neuronal Ceroid Lipofuscinoses (NCLs), inherited neurodegenerative disorders, are the second mos...
Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen ra...
2 p.Introduction: Neuronal ceroid lipofuscinosis (NCL), inherited neurodegenerative diseases of all...
Background: The Argentinean program was initiated more than a decade ago as the first experience of ...
Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with...
Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of N...
BackgroundThe classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically ma...
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs...
AIM: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative...
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset...
Introduction : Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegener...
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage di...
La enfermedad CLN8 es uno de los 13 tipos genéticos reconocidos de lipofuscinosis neuronal ceroidea,...
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage di...
Abstract Background Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characteri...
The Neuronal Ceroid Lipofuscinoses (NCLs), inherited neurodegenerative disorders, are the second mos...
Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen ra...
2 p.Introduction: Neuronal ceroid lipofuscinosis (NCL), inherited neurodegenerative diseases of all...
Background: The Argentinean program was initiated more than a decade ago as the first experience of ...
Neuronal ceroid lipofuscinosis (NCL), inheritedneurodegenerative diseases of all ages, presents with...
Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of N...
BackgroundThe classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically ma...
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs...
AIM: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative...
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset...
Introduction : Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegener...
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage di...
La enfermedad CLN8 es uno de los 13 tipos genéticos reconocidos de lipofuscinosis neuronal ceroidea,...
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal storage di...
Abstract Background Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characteri...