Results 71 to 80 of about 4,597 (153)

The Challenges of Living with and Caring for a Child or Children Affected by Neuronal Ceroid Lipofuscinosis Type 2 Disease: In-Depth Family Surveys in the United Kingdom and Germany

Journal of Inborn Errors of Metabolism and Screening
Limited research has investigated the challenges faced by families caring for children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Face-to-face, mixed-method, in-depth surveys were conducted with 19 families (23 children) in the UK (n=9 ...
Angela Schulz, Mohit Jain, Thomas Butt, Rachel Ballinger, Lina Eliasson, Jake Macey, Tessa Peasgood, Andrew Olaye, Irini-Alexia Terzakis-Snyder, Iris Dyck, Andrea West   +10 more
doaj   +1 more source

A Single-Center Review of Infusion-Associated Reactions in Patients with CLN2 Disease Receiving Cerliponase Alfa

Biologics
Background: Cerliponase alfa is an intracerebroventricular (ICV) enzyme replacement therapy (ERT) and the only approved treatment for neuronal ceroid lipofuscinosis type 2 (CLN2) disease.
Rebecca Whiteley, Megan Keating, Mel McSweeney, Megan Dorman, Mathilda Antonini, Spyros Batzios, Emma Footitt, Laura Lee-Clark, Paul Gissen   +8 more
doaj   +1 more source

Real-world clinical outcomes of patients with CLN2 disease treated with cerliponase alfa

Frontiers in Neurology
IntroductionThis study assessed the real-world effectiveness and safety of the enzyme replacement therapy (ERT), cerliponase alfa, to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease.MethodsData from the DEM-CHILD database were analyzed ...
Angela Schulz, Angela Schulz, Christoph Schwering, Eva Wibbeler, Lena Marie Westermann, Luca Hagenah, Susanne Lezius, Ashok Jha, Abigail Hunt, Peter Slasor, Pascal Reisewitz, Miriam Nickel   +11 more
doaj   +1 more source

Early diagnosis of neuronal ceroid lipofuscinosis type 2 – a myth or reality?

Paediatria Croatica, 2020
Neuronska ceroidna lipofuscinoza-tip 2 (CLN2) najčešća je dječja progresivna neurodegenerativna bolest. Glavna obilježja bolesti CLN2 su usporen razvoj govora koji prethodi epileptičkim napadajima, motoričkim poremećajima, progresivnom propadanju vida i kognitivnih funkcija te smrti u dobi rane adolescencije.
openaire   +3 more sources

Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness – A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease

Eye and Brain
Nikolaos Gkalapis,1,2,* Simon Dulz,1,* Carsten Grohmann,1 Miriam Nickel,3 Christoph Schwering,3 Eva Wibbeler,3 Martin Stephan Spitzer,1 Angela Schulz,3 Yevgeniya Atiskova1 1Department of Ophthalmology, University Medical Center Hamburg-Eppendorf,
Gkalapis N, Dulz S, Grohmann C, Nickel M, Schwering C, Wibbeler E, Spitzer MS, Schulz A, Atiskova Y   +8 more
doaj  

Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

Molecular Genetics & Genomic Medicine
Background Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 disease) to ...
Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann   +6 more
doaj   +1 more source

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 Reports
Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes.
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva   +34 more
doaj   +1 more source

Neuronal Ceroid Lipofuscinosis Type 2 [PDF]

, 2020
openaire   +1 more source

Atypical neuronal ceroid lipofuscinosis type 2 disease (CLN2): a case report

Arquivos de Neuro-Psiquiatria, 2023
Mariana Braga Valadão, Juliana Gurgel Gianetti, Beatriz Vilela Morais de Azevedo, Yuri Barcelos, Laryssa da Silva Ribeiro, Aline dos Passos Moraes   +5 more
openaire   +1 more source

Proteomic analysis of blood serum in bipolar disorder

European Psychiatry
Introduction Bipolar disorder (BD) often has symptoms similar to other mental disorders (BD), and there are no paraclinical criteria for differential diagnosis. (Geoffroy et al. Bip Dis 2017; 5 7).
L. Smirnova, A. Seregin, E. Dmitrieva, M. Zavialova, S. Ivanova   +4 more
doaj   +1 more source