Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world-Reference-Cited by-同舟云学术

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

Published:2020-12-30 Issue:4 Volume:57 Page:519-525
ISSN:1034-4810
Container-title:Journal of Paediatrics and Child Health
language:en
Short-container-title:J Paediatr Child Health

Author:

Lourenço Charles M¹,Pessoa Andre²,Mendes Carmen C³,Rivera‐Nieto Carolina⁴,Vergara Diane⁵,Troncoso Mónica⁵,Gardner Emily⁶,Mallorens Francisca⁷,Tavera Lina⁸,Lizcano Luis A⁹,Atanacio Nora¹⁰,Guelbert Norberto¹¹,Specola Norma¹²,Mancilla Nury¹³,Souza Carolina F M¹⁴^ORCID,Mole Sara E¹⁵

Affiliation:

1. School of Medicine Estácio University Center Ribeirão Preto São Paulo Brazil

2. Pediatric Neurology Service, Albert Sabin Children's Hospital University of Ceará State Fortaleza Ceará Brazil

3. Reference Center in Inborn Errors of Metabolism, Department of Pediatrics Universidade Federal de São Paulo São Paulo Brazil

4. Medical Genetic Service Fundación Cardioinfantil Bogotá Colombia

5. Service of Children Neuropsychiatry, San Borja Arriarán Hospital School of Medicine of the University of Chile Santiago Chile

6. UCL MRC Laboratory for Molecular Cell Biology University College London London United Kingdom

7. Medical Genetics Section Hospital Nacional Prof. A. Posadas Buenos Aires Argentina

8. Foundation Neuroconexion Armenia Colombia

9. Human Genetic Service Bogotá Colombia

10. Dr. N.A Chamoles Laboratory Pedro de Elizalde Children's Hospital Buenos Aires Argentina

11. Metabolic Disease Section Corboda Children's Hospital Buenos Aires Argentina

12. Metabolic Unit Children Hospital of La Plata Buenos Aires Argentina

13. Department of Paediatrics National University of Colombia Bogotá Colombia

14. Medical Genetic Service Porto Alegre Clinic Hospital Porto Alegre Brazil

15. UCL MRC Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health University College London London United Kingdom

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jpc.15250

Reference24 articles.

1. Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases

2. Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

3. Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency

4. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

5. Management Strategies for CLN2 Disease

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