المؤلفون: Silene M. Silvera-Ruiz, Corinne Gemperle, Natalia Peano, Valentina Olivero, Adriana Becerra, Johannes Häberle, Adriana Gruppi, Laura E. Larovere, Ruben D. Motrich

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: urea cycle defects, HHH syndrome, infection, hyperammonemia, immunodeficiency, T cells, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.861516/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/c92001fc03194901a78006c1af473c3c

المؤلفون: Wild, Katherine Taylor^Aff13, Ganetzky, Rebecca D.^Aff13, Yudkoff, Marc^Aff13, Ierardi-Curto, Lynne^Aff13

المساهمون: Baumgartner, Matthias, Series Editor^{Aff1, Aff8}, Patterson, Marc, Series Editor^{Aff2, Aff9}, Rahman, Shamima, Series Editor^{Aff3, Aff10}, Peters, Verena, Series Editor^{Aff4, Aff12}, Morava, Eva, Editor-in-Chief^{Aff5, Aff7}, Zschocke, Johannes, Series Editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 44. 44:103-107

المؤلفون: Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: HHH syndrome, Hereditary spastic paraplegia, Urea cycle defects, Ornithine, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1181-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3c89ffaf434c4e04b6270ebaa30a1423

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المؤلفون: Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo^Aff1

المصدر: Orphanet Journal of Rare Diseases. 14(1)

المؤلفون: Tomoki Kaneko, Yumi Hoshino, Atsuhiro Matsuno, Yoshiki Sekijima, Masahide Yazaki, Minori Kodaira, Kyoko Takano, Tetsuhiro Fukuyama

المصدر: Internal Medicine. 61:553-557

مصطلحات موضوعية: Male, Ornithine, medicine.medical_specialty, Gastroenterology, Leukoencephalopathy, Epilepsy, Lactulose, HHH SYNDROME, Ammonia, Leukoencephalopathies, Internal medicine, Internal Medicine, medicine, Humans, Hyperammonemia, Child, Urea Cycle Disorders, Inborn, Hyperornithinemia, Gait Disturbance, business.industry, General Medicine, Middle Aged, medicine.disease, Toxicity, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dfff76cae6a64cf19005e0a7b47aded
https://doi.org/10.2169/internalmedicine.7843-21

المؤلفون: Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: Hereditary Spastic Paraplegia, SPG9, ALDH18A1, P5CS deficiency, arginase deficiency, HHH syndrome, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00131/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/e2f0986112c34ab4a93c04e441f067d4

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المؤلفون: Mary Anne Preece, Meranthi Fernando, Saikat Santra, Suresh Vijay, Rachel M. Brown, Astor Rodrigues, Girish Gupte

المصدر: Euroasian Journal of Hepato-Gastroenterology

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, HHH syndrome, Case Report, Hyperammonemia, Disease, medicine.disease, Comorbidity, Wilson's disease, Sepsis, Liver disease, HHH SYNDROME, medicine, Child, business, Liver transplant, Hyperornithinemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c51c6a2e747cf18dcfc772f93cd29a
https://doi.org/10.5005/jp-journals-10018-1351

المؤلفون: Zanatta, Ângela, Rodrigues, Marília Danyelle Nunes, Amaral, Alexandre Umpierrez, Souza, Débora Guerini, Quincozes-Santos, André, Wajner, Moacir

المصدر: Neurochemical Research. September 2016 41(9):2190-2198