Results 121 to 130 of about 4,597 (153)
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Type 2 GM 1 gangliosidosis with long survival and neuronal ceroid lipofuscinosis
Neurology, 1981Neurologic deterioration began in a girl before age 2 years. By 4 she was spastic and decerebrate. GM1 gangliosidosis was diagnosed by absence of beta-galactosidase activity in leukocytes and fibroblasts. She died at 17 years. Her small brain contained only 2.61 mumole glycolipid N-acetylneuraminic acid per gram, and was filled with autofluorescent ...
J A, Lowden +5 more
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European Journal of Paediatric Neurology, 2021
To evaluate the clinical phenotype, disease course, laboratory, and genetic features of patients with CLN2 disease over a 20 year period with a special emphasis on risk factors for diagnostic delay.Thirty patients (23 families) with CLN2 disease, evaluated between 1996 and 2019 in a tertiary referral center in Turkey, were included.
Didem Ardicli +4 more
openaire +3 more sources
To evaluate the clinical phenotype, disease course, laboratory, and genetic features of patients with CLN2 disease over a 20 year period with a special emphasis on risk factors for diagnostic delay.Thirty patients (23 families) with CLN2 disease, evaluated between 1996 and 2019 in a tertiary referral center in Turkey, were included.
Didem Ardicli +4 more
openaire +3 more sources
Journal of Child Neurology, 2016
Objective: The objective was to identify unique features of the photoparoxysmal response seen in patients with neuronal ceroid lipofuscinosis type 2 as compared to patients with a photoparoxysmal response associated with other epilepsy syndromes. Methods:
Dara V, Albert +3 more
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Objective: The objective was to identify unique features of the photoparoxysmal response seen in patients with neuronal ceroid lipofuscinosis type 2 as compared to patients with a photoparoxysmal response associated with other epilepsy syndromes. Methods:
Dara V, Albert +3 more
openaire +2 more sources
Molecular Genetics and Metabolism, 2019
The multiple clinical manifestations and progressive nature of CLN2 disease, a major form of the neuronal ceroid lipofuscinoses or Batten disease, make the management of patients challenging. Although guidelines are available, the methodology used to formulate clinical recommendations has come under increased scrutiny, highlighting a need for robust ...
Christian J. Hendriksz +3 more
openaire +1 more source
The multiple clinical manifestations and progressive nature of CLN2 disease, a major form of the neuronal ceroid lipofuscinoses or Batten disease, make the management of patients challenging. Although guidelines are available, the methodology used to formulate clinical recommendations has come under increased scrutiny, highlighting a need for robust ...
Christian J. Hendriksz +3 more
openaire +1 more source
Journal of Child Neurology, 2019
The objective of this review is to summarize the pharmacology, efficacy, and safety of cerliponase alfa for the treatment of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). Cerliponase alfa is recombinant human tripeptidyl peptidase 1 enzyme replacement therapy.
Grace Lewis +3 more
openaire +2 more sources
The objective of this review is to summarize the pharmacology, efficacy, and safety of cerliponase alfa for the treatment of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). Cerliponase alfa is recombinant human tripeptidyl peptidase 1 enzyme replacement therapy.
Grace Lewis +3 more
openaire +2 more sources
Type 2 GM 1 gangliosidosis and neuronal ceroid lipofuscinosis
Neurology, 1982J. A. Lowden +5 more
openaire +3 more sources
Cerliponase Alfa for Pediatric Patients With Neuronal Ceroid Lipofuscinosis Type 2 Disease
Canadian Journal of Health TechnologiesWhat Is the Issue? Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an ultrarare, severe, and rapidly progressing lysosomal storage disorder, with a global incidence of approximately 0.15 to 9.0 per 100,000 live births. It has a devastating impact on children and families, leading to rapid functional decline and early death without effective ...
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Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview
Frontiers in Neurology, 2022Alessandro Simonati, Ruth E Williams
exaly