Results 31 to 40 of about 1,132 (104)

Role of Argininosuccinate Synthase 1 ‐Dependent L‐Arginine Biosynthesis in the Protective Effect of Endothelial Sirtuin 3 Against Atherosclerosis

Advanced Science, Volume 11, Issue 12, March 27, 2024.
This investigation delves into the role of Sirtuin 3 (SIRT3), a mitochondrial deacetylase, within endothelial cells during atherosclerosis. The findings elucidate that the deletion of endothelial SIRT3 induces hyperacetylation and inactivation of Argininosuccinate Synthase 1 (ASS1), thereby disrupting the crucial L‐arginine synthesis pathway.
Xiaoyun Cao, Vivian Wei Yan Wu, Yumeng Han, Huiling Hong, Yalan Wu, Alice Pik Shan Kong, Kathy O Lui, Xiao Yu Tian   +7 more
wiley   +1 more source

Unusual Causes of Hyperammonemia in the Ed

, 2009
Plasma ammonia measurement is a simple yet important screening in the ED for patients with unexplained stupor or delirium. Acute hyperammonemia is a medical emergency for which immediate steps must be taken to minimize permanent brain damage.
翁德怡;石富元;陳文鍾, WENG, TE-I;SHIH, FUH-YUAN;CHEN, WEN-JONE   +1 more
core  

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients. [PDF]

Mol Genet Genomic Med
Wang Q, Xiao H, Zhang F, Li H, Zhao J, Yuan H.   +5 more
europepmc   +1 more source

Fatal Late-Onset Ornithine Transcarbamylase Deficiency in an Adolescent: A Case Report. [PDF]

Cureus
Christou E, Ntouzepi K, Machaira M, Tziouvas K, Patsoura A.   +4 more
europepmc   +1 more source

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions. [PDF]

Clin Case Rep
Khan M, Rafique SA, Khan S, Shah A, Karan A, Khalid AA, Afridi A, Tamim H, Talukder MRT.   +8 more
europepmc   +1 more source

Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency. [PDF]

BMC Pediatr
Dweikat I, Kassem H, Hamdan KR, Rayyan FA, Awad F.   +4 more
europepmc   +1 more source

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan. [PDF]

Int J Neonatal Screen
Lee T, Matsui M, Yokoyama Y, Bo R, Awano H, Kataoka D, Ueda M, Minato T, Kobayashi H, Hasegawa Y, Murayama K, Takeshima Y.   +11 more
europepmc   +1 more source

Radiation therapy in a ductal carcinoma in situ patient with ornithine transcarbamylase deficiency: a case report. [PDF]

Radiat Oncol J
Kang I, Park J, Yang C, Kim A, Tang M, Lu K, Carr A, Sener SF, McGowan R, Yano S, Yoo SK.   +10 more
europepmc   +1 more source

A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy. [PDF]

Intern Med
Toba N, Sonoda T, Ishigaki S, Oda M, Nakamura Y, Kudo H, Nakajima S, Takikawa K, Ouchi H, Kato K, Kikuchi T, Nakaya I.   +11 more
europepmc   +1 more source

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders. [PDF]

Sci Rep
Posset R, Epp F, Garbade SF, Gleich F, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M.   +8 more
europepmc   +1 more source