Results 21 to 30 of about 41,178 (242)

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

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   +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

EVALUATION OF APPLIED DIETARY MANAGEMENT IN PATIENTS WITH UREA CYCLE DISORDERS [PDF]

Journal of Environmental Science, 2020
Urea cycle disorders (UCDs) represent a group of rare inherited metabolic disorders resulting from a partial or complete deficiency of one of the urea cycle components, thereby resulting in accumulation of ammonia, as well as other nitrogenous products ...
Neama NorEldin, Safwat Ali, Osama Zaki, Mohamed Omar   +3 more
doaj   +1 more source

Management of metabolic crisis in three-dayold newborn

Liječnički vjesnik, 2023
Urea cycle disorders are a group of metabolic disorders, caused by deficiency of one of the enzymes in the urea cycle, presenting with hyperammonemia triggered by catabolism or protein overload.
Tea Kržak, Lorena Loje Loje, Ivo Barić, Dorotea Ninković   +3 more
doaj   +1 more source

Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

Frontiers in Neurology, 2020
Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function and working memory.
Afrouz A. Anderson, Andrea Gropman, Cynthia Le Mons, Constantine A. Stratakis, Amir H. Gandjbakhche   +4 more
doaj   +1 more source

Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician

Вопросы современной педиатрии, 2023
Hereditary amino acid metabolism disorders (aminoacidopathies) are clinically and genetically heterogeneous group of hereditary metabolic diseases caused by enzymes deficiency involved in amino acid metabolism, that finally leads to progressive damage of
Nataliya V. Zhurkova, Nato V. Vashakmadze, Nataliya S. Sergienko, Anastasiya N. Dudina, Mariya S. Karaseva, Liliya R. Selimzyanova, Anna Yu. Rachkova, Yuliya Yu. Kotalevskaya, Andrey N. Surkov   +8 more
doaj   +1 more source