Corrigendum to “Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa.” [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060] [PDF]
Molecular Genetics and Metabolism Reports[This corrects the article DOI: 10.1016/j.ymgmr.2024.101060.].
Norberto Guelbert +34 more
doaj +3 more sources
Cerliponase alfa for neuronal ceroid lipofuscinosis type 2 disease. [PDF]
Aust Prescr, 2019 europepmc +5 more sources
Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina
Journal of Inborn Errors of Metabolism and Screening, 2022 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.
Guillermo Guelbert, Norberto Guelbert
doaj +2 more sources
Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2) [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Utility studies enable preference-based quantification of a disease’s impact on patients’ health-related quality of life (HRQoL). It is often difficult to obtain utility values for rare, neurodegenerative conditions due to cognitive burden of ...
Paul Gissen +16 more
doaj +2 more sources
Patient and Family Perspective on Transition from Ventricular Access Device to Chest-Sited Port for Intracerebroventricular Infusion in CLN2 Disease [PDF]
ChildrenBackground: Cerliponase alfa is currently the only approved disease-modifying therapy for neuronal ceroid lipofuscinosis type 2 (CLN2) disease and requires lifelong intracerebroventricular (ICV) infusion, traditionally via a scalp-sited ventricular ...
Mahie Gopalka +3 more
doaj +2 more sources
Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. [PDF]
J Inherit Metab DisABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Ain NU, Vaishnaw M, Mistry PK.
europepmc +2 more sources
Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy
Therapeutics and Clinical Risk Management, 2020 Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyCorrespondence: Nicola SpecchioDepartment of Neuroscience, Bambino Ges ...
Specchio N, Pietrafusa N, Trivisano M
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background The evaluation of clinical evidence takes account of health benefit (efficacy and safety) and the degree of certainty in the estimate of benefit.
Jaro Wex +4 more
doaj +2 more sources
Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy [PDF]
Frontiers in GeneticsA class of progressive, autosomal recessive neurodegenerative diseases known as neuronal ceroid lipofuscinoses (NCLs) are brought on by lysosomal protein or enzyme dysfunction.
Anna Bryzik +4 more
doaj +2 more sources