Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease.

Autor: O'Neal M; Department of Pediatric Neurology, Nationwide Children's Hospital, Columbus, Ohio., Noher de Halac I; Consultant Professor, National University of Cordoba, Córdoba, Argentina., Aylward SC; Department of Pediatric Neurology, Nationwide Children's Hospital, Columbus, Ohio; The Ohio State University College of Medicine, Columbus, Ohio., Yildiz V; Biostatistics Resource at Nationwide Children's Hospital (BRANCH), Nationwide Children's Hospital, Columbus, Ohio; Center for Biostatistics, Department of Biomedical Informatics, The Ohio State University College of Medicine, Columbus, Ohio., Zapanta B; Division of Molecular and Human Genetics, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio., Abreu N; Department of Neurology, NYU Grossman School of Medicine, New York, New York., de Los Reyes E; Department of Pediatric Neurology, Nationwide Children's Hospital, Columbus, Ohio; The Ohio State University College of Medicine, Columbus, Ohio. Electronic address: Emily.delosReyes@nationwidechildrens.org.

Publikováno v: Pediatric neurology [Pediatr Neurol] 2024 May; Vol. 154, pp. 51-57. Date of Electronic Publication: 2024 Mar 01.

Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.

Autor: Kayani, Saima^1,2 (AUTHOR) Saima.Kayani@utsouthwestern.edu, BordesEdgar, Veronica^1,2,3 (AUTHOR), Lowden, Andrea^1,2,4 (AUTHOR), Nettesheim, Emily R.⁵ (AUTHOR), Dahshi, Hamza⁶ (AUTHOR), Messahel, Souad⁶ (AUTHOR), Minassian, Berge A.^1,2 (AUTHOR), Greenberg, Benjamin M.^1,2,4,6 (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 12/19/2024, Vol. 19 Issue 1, p1-12. 12p.

[Untitled]

Autor: Bacman, Noher de Halac I, de Kremer Rd

Publikováno v: Histochemical Journal. 32:133-137

Histoenzymological methods usually performed on muscle fibres have been adapted to assess the functioning of oxidative phosphorylation in human circulating blood lymphocytes and monocytes. Oxidases and dehydrogenases were analysed in lymphocyte/monoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5e3054791df344348305886b61f8e41d
https://doi.org/10.1023/a:1004078705513

Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype.

Autor: Pesaola F; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina.; Consejo Nacional de Investigaciones Cientificas y Tecnicas de Argentina (CONICET), Cordoba, Argentina., Kohan R; Universidad Nacional de Cordoba. Facultad de Odontologia, Cordoba, Argentina., Cismondi IA; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina.; Universidad Nacional de Cordoba. Facultad de Odontologia, Cordoba, Argentina., Guelbert N; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina., Pons P; Universidad Nacional de Cordoba. Facultad de Ciencias Medicas., Cordoba, Argentina., Oller-Ramirez AM; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina.; Consejo Nacional de Investigaciones Cientificas y Tecnicas de Argentina (CONICET), Cordoba, Argentina., Noher de Halac I; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina.; Consejo Nacional de Investigaciones Cientificas y Tecnicas de Argentina (CONICET), Cordoba, Argentina.

Publikováno v: Revista de neurologia [Rev Neurol] 2019 Feb 16; Vol. 68 (4), pp. 155-159.

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

Autor: Fietz M; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, Australia., AlSayed M; Department of Medical Genetics, Alfaisal University, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Burke D; Chemical Pathology, Camelia Botnar Laboratories, Great Ormond Street Hospital, London, UK., Cohen-Pfeffer J; BioMarin Pharmaceutical Inc., Novato, CA, USA., Cooper JD; Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Dvořáková L; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Prague, Czech Republic., Giugliani R; Medical Genetics Service, HCPA, Department of Genetics, UFRGS, INAGEMP, Porto Alegre, Brazil., Izzo E; BioMarin Pharmaceutical Inc., Novato, CA, USA., Jahnová H; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Prague, Czech Republic., Lukacs Z; Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center, Hamburg, Germany., Mole SE; MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, University College London, London, UK., Noher de Halac I; Facultad de Ciencias Médicas, Universidad Nacional de Córdoba and National Research Council-CONICET, Córdoba, Argentina., Pearce DA; Sanford Children's Health Research Center, Sioux Falls, SD, USA., Poupetova H; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Prague, Czech Republic., Schulz A; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Specchio N; Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy., Xin W; Neurogenetics DNA Diagnostic Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Miller N; BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: NMiller@bmrn.com.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2016 Sep; Vol. 119 (1-2), pp. 160-7. Date of Electronic Publication: 2016 Jul 25.