Results 71 to 80 of about 3,709 (187)

Ornithine transcarbamylase deficiency.

Journal of the Formosan Medical Association = Taiwan yi zhi, 1997
Two infants, one male and one female, with elevated serum ammonia levels, were shown, based on urine organic acid analysis and DNA studies, to have ornithine transcarbamylase (OTC) deficiency. OTC deficiency is one of the most common urea cycle disorders. Hyperammonemia occurred at 3 days of age in the male infant, and at approximately 7 days of age in
S J, Yeh, W L, Hou, W S, Tsai, T J, Wu, M, Tuchman, T R, Wang   +5 more
openaire   +1 more source

mRNA Lipid Nanoparticles for Cell Engineering in Vivo and in Vitro: Current Applications and Future Directions

MedComm, Volume 7, Issue 5, May 2026.
Schematic diagram of mRNA‐lipid nanoparticles (mRNA‐LNP) and its functional mechanisms, applications, and challenges in cell engineering. This figure details the structural composition of mRNA‐LNPs and the delivery strategy, highlighting three core challenges.
Lina Li, Menglan Wang, Xiuhan Ye, Zhiyan Liu, Yijing Duan, Xiaoming Chen, Yue Ouyang, Qibiao Wu, Mengjuan Sun, Tian Xie   +9 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Zinc supplementation reduces blood ammonia and increases liver ornithine transcarbamylase activity in experimental cirrhosis

, 1992
Zinc deficiency is common in cirrhosis and may be involved in the alteration of ammonia metabolism. Rats with carbon tetrachloride-induced cirrhosis have high plasma ammonia and low serum and tissue zinc levels.
Renzo Moretti, Livio Capocaccia, FRANCHITTO, Antonio, MERLI, Manuela, Alfredo Cantafora, Giorgio Pinto, Angelo Zullo, GAUDIO, EUGENIO, Massimo Caschera, Roberta Spagnoli, RIGGIO, Oliviero, Siro Seri, Elvira D'Aquilino   +12 more
core   +1 more source

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, Volume 38, Issue 22, 17 April 2026.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management [PDF]

, 2013
Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. The clinical presentation in female manifesting carriers varies both in onset and severity.
Villavicencio-Lorini, Pablo, Sarah C Grünert, Jörn Sass, Grünert, Sarah, Sass, Jörn Oliver, Schwab, Karl Otfried, Schwab, K Otfried, K Schwab, Grünert, Sarah C, Lehnert, Willy, Willy Lehnert, Pablo Villavicencio-Lorini, Saß, Jörn-Oliver, Bendicht Wermuth, Schwab, K. Otfried, Grünert, Sarah C., Wermuth, Bendicht   +16 more
core   +1 more source

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)

, 2006
Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing to ...
Diogo, L, Cenni, B, Soares, P A, Teles, E L, Wermuth, B, Azevedo, L, Martins, E, Vilarinho, L, Amorim, A, Quental, R, Garcia, P   +10 more
core   +1 more source

Prenatal diagnosis of ornithine transcarbamylase deficiency: optimizing pregnancy outcome in a woman with previous affected babies

, 2018
Ornithine Transcarbamylase (OTC) deficiency is an inherited X-linked disorder which predominantly affects males. Females are usually carriers and may rarely be symptomatic. Affected individuals may present with severe life threatening disease immediately
Chandrasekaran, Swaramya, Swaramya Chandrasekaran, Galidevara, Chandana, Chandana Galidevara   +3 more
core   +1 more source

Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy [PDF]

, 1995
Ornithine transcarbamylase (OTC) deficiency is an X chromosome-linked disorder causing hyperammonemic encephalopathy with a very poor prognosis. We describe here two patients with OTC deficiency, one a late-onset female patient (case 1) and the other a ...
Todo, S, Finegold, DN, Nour, B, Reyes, J, Starzl, TE, Tzakis, AG, Hasegawa, T   +6 more
core   +1 more source

Chronic and Variable Manifestations of Ornithine Transcarbamylase Deficiency in Heterozygous Carriers: A Case Series of Three Colombian Patients

Journal of Inborn Errors of Metabolism and Screening
Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder with an estimated prevalence ranging from 1 in 56,500 to 1 in 113,000 live births.
Ana María Zarante-Bahamón, Jenniffer A. Romero-Morales, Jorge Luis Ramón-Gómez   +2 more
doaj   +1 more source