Results 11 to 20 of about 41,607 (263)

Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders [PDF]

EMBO Molecular Medicine, 2020
Urea cycle disorders (UCD) are inherited defects in clearance of waste nitrogen with high morbidity and mortality. Novel and more effective therapies for UCD are needed.
Leandro R Soria, Sonam Gurung, Giulia De Sabbata, Dany P Perocheau, Angela De Angelis, Gemma Bruno, Elena Polishchuk, Debora Paris, Paola Cuomo, Andrea Motta, Michael Orford, Youssef Khalil, Simon Eaton, Philippa B Mills, Simon N Waddington, Carmine Settembre, Andrés F Muro, Julien Baruteau, Nicola Brunetti‐Pierri   +18 more
doaj   +5 more sources

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders [PDF]

Genetics in Medicine, 2023
Purpose: Liver transplantation (LTx) is performed in individuals with urea cycle disorders when medical management (MM) insufficiently prevents the occurrence of hyperammonemic events.
Roland Posset, Jürgen G Okun, Matthias Zielonka   +2 more
exaly   +7 more sources

Urea Cycle Disorders in Neonates: Six Case Reports [PDF]

Journal of Pediatric Research, 2017
Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases)
Kıymet Çelik, Demet Terek, Özgür Olukman, Mehtap Kağnıcı, Şükran Keskin Gözmen, Erkin Serdaroğlu, Şebnem Çalkavur, Sertaç Arslanoğlu   +7 more
doaj   +3 more sources

Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives

Patient Preference and Adherence, 2017
Luis Peña-Quintana,1–3 Marta Llarena,2 Desiderio Reyes-Suárez,2 Luis Aldámiz-Echevarria4 1Pediatric Gastroenterology, Hepatology, and Nutrition Unit, Universitario Materno-Infantil Hospital de Canarias, University of Las ...
Peña-Quintana L, Llarena M, Reyes-Suárez D, Aldámiz-Echevarria L   +3 more
doaj   +3 more sources

Physical, cognitive, and social status of patients with urea cycle disorders in Japan [PDF]

Molecular Genetics and Metabolism Reports, 2021
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present status ...
Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura   +10 more
doaj   +2 more sources

Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders [PDF]

Molecular Genetics and Metabolism Reports, 2021
Urea cycle disorders (UCDs), inborn errors of hepatocyte metabolism, cause hyperammonemia and lead to neurocognitive deficits, coma, and even death. Sodium 4-phenylbutyrate (NaPB), a standard adjunctive therapy for UCDs, generates an alternative pathway ...
Yoko Nakajima, Shuhei Osaka, Tadahaya Mizuno, Katsuyuki Yokoi, Satoshi Nakano, Saeko Hirai, Yuka Hiraoka, Yoshiki Miura, Mitsuyoshi Suzuki, Hiroyuki Kusuhara, Hisamitsu Hayashi   +10 more
doaj   +2 more sources

First-in-human clinical study of an embryonic stem cell product for urea cycle disorders [PDF]

Stem Cell Research & Therapy
Background This study assesses the safety and efficacy of hepatocyte-like cell (HLC) infusion therapy derived from human embryonic stem cells as bridging therapy for neonatal-onset urea cycle disorders (UCD).
Akihiro Umezawa, Akinari Fukuda, Reiko Horikawa, Hajime Uchida, Shin Enosawa, Yoshie Oishi, Naoko Nakamura, Kengo Sasaki, Yusuke Yanagi, Seiichi Shimizu, Toshimasa Nakao, Tasuku Kodama, Seisuke Sakamoto, Itaru Hayakawa, Saeko Akiyama, Noriaki Saku, Shoko Miyata, Kenta Ite, Palaksha Kanive Javaregowda, Masashi Toyoda, Hidenori Nonaka, Kazuaki Nakamura, Yoshikazu Ito, Yasuyuki Fukuhara, Osamu Miyazaki, Shunsuke Nosaka, Kazuhiko Nakabayashi, Chizuko Haga, Takako Yoshioka, Akira Masuda, Takashi Ohkura, Mayu Yamazaki-Inoue, Masakazu Machida, Rie Abutani-Sakamoto, Shoko Miyajima, Hidenori Akutsu, Yoichi Matsubara, Takashi Igarashi, Mureo Kasahara   +38 more
doaj   +2 more sources

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings [PDF]

Orphanet Journal of Rare Diseases, 2019
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 examined at a ...
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   +9 more
doaj   +2 more sources

Carbonic anhydrase-VA deficiency: A close mimicker of urea cycle disorders [PDF]

Annals of Indian Academy of Neurology, 2021
Bhanudeep Singanamalla, Arushi Gahlot Saini, Savita Verma Attri, Renu Suthar, Kanya Mukhopadhyay   +4 more
doaj   +2 more sources

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Molecular Genetics and Metabolism Reports, 2021
Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel
Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons   +6 more
doaj   +1 more source