Zobrazeno 1 - 10
of 141
pro vyhledávání: '"Urea cycle defects"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101156- (2024)
Background: Protein metabolism and urea production maintain protein and amino acid homeostasis in normal status. Ammonia results from amino acid turnover and is produced by intestinal urease-positive bacteria. Ammonia must be detoxified, and the urea
Externí odkaz:
https://doaj.org/article/42e83b7f6c4c49f48b0af6b8e9caae4e
Akademický článek
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Publikováno v:
Türk Nöroloji Dergisi, Vol 28, Iss 3, Pp 197-199 (2022)
Externí odkaz:
https://doaj.org/article/aa1ca3bd92694e75911381b6ae9d2240
Autor:
Silene M. Silvera-Ruiz, Corinne Gemperle, Natalia Peano, Valentina Olivero, Adriana Becerra, Johannes Häberle, Adriana Gruppi, Laura E. Larovere, Ruben D. Motrich
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the SLC25A15 gene. Besides the well-known metabolic complications, patients often present interc
Externí odkaz:
https://doaj.org/article/c92001fc03194901a78006c1af473c3c
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 28-34 (2020)
Abstract Carbamoylphosphate synthetase 1 (CPS1) deficiency is a rare inborn error of metabolism leading often to neonatal onset hyperammonemia with coma and high mortality. The biochemical features of the disease are nonspecific and cannot distinguis
Externí odkaz:
https://doaj.org/article/6ee11ca05829470ab7572558d62b8235
Akademický článek
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Autor:
Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar dysfunction, whose pathophysiology is not yet fully understood. Here we d
Externí odkaz:
https://doaj.org/article/3c89ffaf434c4e04b6270ebaa30a1423
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examin
Externí odkaz:
https://doaj.org/article/17dc06246177496fb683b009d2c14c63
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Autor:
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy betwe
Externí odkaz:
https://doaj.org/article/693ce51ab3634e2681369cd0d228d859
Publikováno v:
Giornale di Clinica Nefrologia e Dialisi, Vol 28, Iss 4 (2016)
Abstract non disponibile
Externí odkaz:
https://doaj.org/article/9f4813712cea472d84384aa385b75345