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WITHDRAWN: Recommendations for evaluation and management of pain in patients with mucopolysaccharidosis in Latin America

Autor: Politei, J.M., Gordillo-González, G., Guelbert, N., Souza, C.F.M., Lourenço, C.M., Solano, M.L., Junqueira, M.M., Magalhães, T.S.P.C., Martins, A.M.

Publikováno v: In Journal of Pain and Symptom Management

Neuronal ceroid lipofiscinoses: Revaluation of transmission electron microscopy (TEM) in the genomic era for accuracy definition of CLN5, CLN6, CLN7 and CLN8 diseases

Autor: Cismondi, IA, Pesaola, F, Guelbert, N, Pons, P, Becerra, A, Kohan, R, Noher de Halac, I

Publikováno v: Joint-Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN) and the Scandinavian Neuropathological Society (SNS); 20160922-20160924; Hamburg; DOC16dgnnP30 /20160914/

Introduction: NCL are severe inherited neurodegenerative diseases that occur in all ages. They manifest as refractory epileptic syndrome with progressive intractable seizures, visual failure, dementia, movement disorders, and early death. Mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0885fd054825b923bbe24b01735815

Farber Disease: Important Differential Diagnostic Information for JIA and Other Inflammatory Arthritis Phenotypes Is Revealed By Data from the Largest Clinical Cohort to Date

Autor: Solyom, A., Huegle, B., Magnusson, B., Makay, B., Arslan, N., Mitchell, J., Tanpaiboon, P., Guelbert, N., Puri, R., Jung, L., Giedre Grigelioniene, Ehlert, K., Beck, M., Simonaro, C., Schuchman, E.

Publikováno v: ResearcherID

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ed9a99d2e2ebc985dc26596ab8c6578d
https://avesis.deu.edu.tr/publication/details/2a7004fb-60a8-4021-8385-574d28c4324a/oai

The morphotype, and the residual TPP-1 enzyme activity correlate with the underlying mutations in theTPP1/CLN2gene of Neuronal Ceroid Lipofuscinoses Late Infantile and variant Juvenile

Autor: Noher de Halac, I, Pons, P, Carabelos, N, Guelbert, N, Dodelson de Kremer, R, Cismondi, IA, Alonso, GI, Oller-Ramirez, AM, Kohan, R

Publikováno v: 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN); 20120912-20120915; Erlangen; DOC12dgnnPP4.6 /20120911/

CLN2 (OMIM #204500) is a children's neurodegenerative disorder resulting from a deficiency of the lysosomal enzyme Tripeptidyl-Peptidase-1 (TPP1) encoded by the geneTPP1/CLN2. Inheritance is autosomal recessive. The aim was to investigate the possibl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96b37068fa81f95afd97feae15b7350b