المؤلفون: Maggiore, Giuseppe^Aff3, Corte, Claudia Della^Aff3, Liccardo, Daniela^Aff3, Mosca, Antonella^Aff3, Pietrobattista, Andrea^Aff3

المساهمون: Lima, Mario, editor^Aff1, Mondardini, Maria Cristina, editor^Aff2

المصدر: Frailty in Children : From the Perioperative Management to the Multidisciplinary Approach. :69-87

المؤلفون: Eisenstein, Israel, Pollack, Shirley^{Aff1, Aff2}, Hadash, Amir^{Aff3, Aff2}, Eytan, Danny^{Aff3, Aff2}, Attias, Ori, Halberthal, Michael^{Aff3, Aff2}, Ben-Ari, Josef^{Aff3, Aff2}, Bar-Joseph, Gad^{Aff3, Aff2}, Zelikovic, Israel^{Aff1, Aff2}, Mandel, Hanna^{Aff4, Aff2}, Tal, Galit^{Aff2, Aff4}, Magen, Daniella^{Aff1, Aff2, IDs00467022055073_cor12}

المصدر: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 37(11):2725-2732

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المؤلفون: Başak Elçin Ateş, Turgay Demir, Deniz Kor, Remzi Emre Şahin, Şebnem Bıçakçı

المصدر: Türk Nöroloji Dergisi, Vol 28, Iss 3, Pp 197-199 (2022)

مصطلحات موضوعية: adult-onset, encephalopathy, sodium valproate, type 2 citrullinemia, urea cycle defects, Medicine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-37539; https://doaj.org/toc/1309-2545

URL الوصول: https://doaj.org/article/aa1ca3bd92694e75911381b6ae9d2240

المؤلفون: Naga, Osama I.^Aff2

المساهمون: Naga, Osama I., editor^Aff1

المصدر: Pediatric Board Study Guide : A Last Minute Review. :143-166

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: Burlina, Alberto^Aff2, D’Antiga, Lorenzo^Aff3

المساهمون: D'Antiga, Lorenzo, editor^Aff1

المصدر: Pediatric Hepatology and Liver Transplantation. :603-624

المؤلفون: Jasmine Isler, Véronique Rüfenacht, Corinne Gemperle, Gabriella Allegri, Johannes Häberle

المصدر: JIMD Reports, Vol 52, Iss 1, Pp 28-34 (2020)

مصطلحات موضوعية: carbamoylphosphate synthetase 1, CPS1, next‐generation sequencing, RNA analysis, urea cycle defects, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/6ee11ca05829470ab7572558d62b8235

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

المؤلفون: Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer, Laura E. Laróvere

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Urea cycle defects, Hyperammonemia, Ornithine transcarbamylase deficiency, Argininosuccinate synthetase deficiency, Argininosuccinate lyase deficiency, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1177-3; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/17dc06246177496fb683b009d2c14c63