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Akademický článek

Platelet Membrane Glycoprofiling in a PMM2-CDG Patient

Autor: G.M. Papazoglu, S.M. Silvera Ruiz, R. Salinas, M.I. Pereira, M.A. Cubilla, F. Pesaola, S. Ghione, N. Ramadán, I. Martinez-Duncker, C.G. Asteggiano

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

Abstract Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular tr

Externí odkaz: https://doaj.org/article/7451fa1596314e17ae810c585de98fc6

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Platelet Membrane Glycoprofiling in a PMM2-CDG Patient

Autor: M. Pereira, S. Ghione, Iván Martínez-Duncker, S.M. Silvera Ruiz, N. Ramadán, F. Pesaola, Marisa Cubilla, C. G. Asteggiano, R. Salinas, Gabriela Magali Papazoglu

Publikováno v: Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200030, Published: 27 AUG 2021
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5afc1f6b7c4fbcc29ae060e2c1c681dd
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100323

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Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype

Autor: F, Pesaola, R, Kohan, I A, Cismondi, N, Guelbert, P, Pons, A M, Oller-Ramirez, I, Noher de Halac

Publikováno v: Revista de neurologia. 68(4)

CLN8 disease is one of the thirteen recognized genetic types of neuronal ceroid lipofuscinosis, a group of neurodegenerative lysosomal storage disorders, most frequent in childhood. A putative 286 amino acids transmembrane CLN8 protein with unknown f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f675ec49402c2310c0c54b9d20b5242e
https://pubmed.ncbi.nlm.nih.gov/30741402

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Enfermedad CLN8 congénita de lipofuscinosis neuronal ceroidea: un nuevo fenotipo

Autor: Romina Kohan, Norberto Guelbert, F Pesaola, A M Oller-Ramirez, Inés Adriana Cismondi, I Noher de Halac, Patricia Pons

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

La enfermedad CLN8 es uno de los 13 tipos genéticos reconocidos de lipofuscinosis neuronal ceroidea, un grupo de trastornos neurodegenerativos de acumulación lisosómica, los más frecuentes en la infancia. La causan mutaciones en la proteína tran

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c72ebdb52f6cae1f1076055d346c9fd3
https://www.neurologia.com/articulo/2018217

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