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of 58
pro vyhledávání: '"A Zuppaldi"'
Akademický článek
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Autor:
Giancarlo Parenti, Maria Grazia Caprio, Gianfranco Vallone, Raffaele Iorio, M.G. Puoti, Gabriella Esposito, Simona Fecarotta, Severo Pagliardini, Claudia Zuppaldi, Simona Spadarella, Maria Immacolata Spagnuolo, Fabiola Di Dato
Publikováno v:
Nutrients
Volume 11
Issue 10
Nutrients 11 (2019). doi:10.3390/nu11102397
info:cnr-pdr/source/autori:Di Dato, Fabiola; Spadarella, Simona; Puoti, Maria Giovanna; Caprio, Maria Grazia; Pagliardini, Severo; Zuppaldi, Claudia; Vallone, Gianfranco; Fecarotta, Simona; Esposito, Gabriella; Iorio, Raffaele; Parenti, Giancarlo; Spagnuolo, Maria Immacolata/titolo:Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance/doi:10.3390%2Fnu11102397/rivista:Nutrients/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:11
Nutrients, Vol 11, Iss 10, p 2397 (2019)
Volume 11
Issue 10
Nutrients 11 (2019). doi:10.3390/nu11102397
info:cnr-pdr/source/autori:Di Dato, Fabiola; Spadarella, Simona; Puoti, Maria Giovanna; Caprio, Maria Grazia; Pagliardini, Severo; Zuppaldi, Claudia; Vallone, Gianfranco; Fecarotta, Simona; Esposito, Gabriella; Iorio, Raffaele; Parenti, Giancarlo; Spagnuolo, Maria Immacolata/titolo:Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance/doi:10.3390%2Fnu11102397/rivista:Nutrients/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:11
Nutrients, Vol 11, Iss 10, p 2397 (2019)
Background: Hereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee330900e46ba7dc4871956870b6f875
Autor:
Parenti, Giancarlo, Zuppaldi, Alfredo, Gabriela Pittis, M, Rosaria Tuzzi, M, Annunziata, Ida, Meroni, Germana, Porto, Caterina, Donaudy, Francesca, Rossi, Barbara, Rossi, Massimiliano, Filocamo, Mirella, Donati, Alice, Bembi, Bruno, Ballabio, Andrea, Andria, Generoso
Publikováno v:
In Molecular Therapy March 2007 15(3):508-514
Autor:
M Gabriela Pittis, Andrea Ballabio, Francesca Donaudy, Germana Meroni, Alice Donati, Barbara Rossi, Caterina Porto, Alfredo Zuppaldi, Mirella Filocamo, Massimiliano Rossi, Bruno Bembi, Generoso Andria, Giancarlo Parenti, M Rosaria Tuzzi, Ida Annunziata
Publikováno v:
Molecular Therapy. 15:508-514
We investigated the use of pharmacological chaperones for the therapy of Pompe disease, a metabolic myopathy due to mutations of the gene encoding the lysosomal hydrolase alpha-glucosidase (GAA) and characterized by generalized glycogen storage in ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e210b6a2634b1baabcea4df1dda90231
https://doi.org/10.1038/sj.mt.6300074
https://doi.org/10.1038/sj.mt.6300074
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
A. Correra, Filippo M. Santorelli, M. T. Carbone, Carlo Dionisi-Vici, Simona Fecarotta, Pietro Vajro, Giancarlo Parenti, R. Della Casa, Giuliano Torre, A Zuppaldi, G. Andria, Silvia Riva
Publikováno v:
Journal of Inherited Metabolic Disease. 29:186-189
We report a 3-year-old Italian patient with the hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome who presented with neurological deterioration after an intercurrent infection. Hyperammonaemia, coagulopathy and moderate hypertrans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b546ff0a4347936fc141653889d7328
https://doi.org/10.1007/s10545-006-0120-7
https://doi.org/10.1007/s10545-006-0120-7
Publikováno v:
Digestive and Liver Disease. 50:e416
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::299dd0bcb99b778c5c0acea783f83dcb
https://doi.org/10.1016/s1590-8658(18)31166-6
https://doi.org/10.1016/s1590-8658(18)31166-6
Publikováno v:
Journal of Separation Science. 33:966-973
Orotic acid (ORA) is an intermediate metabolite in the pathway of pyrimidine nucleotides; its urinary excretion is useful to diagnose the hereditary orotic aciduria and some hyperammonemic inherited defects of urea cycle enzymes and amino acid transp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df2cfd44f86320fc1287aa822259bfd3
https://doi.org/10.1002/jssc.200900758
https://doi.org/10.1002/jssc.200900758
Autor:
A. Colao, C. Zuppaldi, G. Cotugno, Rossella Parini, Giancarlo Parenti, M. Cozzolino, R. Della Casa, Daniela Melis, Carlo Dionisi-Vici, Rosario Pivonello, Miriam Rigoldi, Generoso Andria, F. Balivo, A. Del Puente
Publikováno v:
Hormone research in paediatrics. 81(1)
Background: Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. O
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a59e6dc597aa6ecf06a7d0e3dff9da99
https://pubmed.ncbi.nlm.nih.gov/24401800
https://pubmed.ncbi.nlm.nih.gov/24401800
Orotic acid (ORA) is an intermediate metabolite in the pathway of pyrimidine nucleotides; its urinary excretion is useful to diagnose the hereditary orotic aciduria and some hyperammonemic inherited defects of urea cycle enzymes and amino acid transp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::baaec869615e33a54bffd50865ffbe31
http://hdl.handle.net/10281/244067
http://hdl.handle.net/10281/244067
