Results 121 to 130 of about 9,393 (183)

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel. [PDF]

Genes (Basel)
Abelson N, Kristal E, Hershkovitz E, Wormser O, Dolgin V, Amar S, Staretz-Chacham O.   +6 more
europepmc   +1 more source

Case Report: Carglumic acid accelerates ammonia clearance in a neonate with methylmalonic acidemia. [PDF]

Front Pediatr
Ma Q, Luo Y, Zhang X, Xu L, Shi D, Shi M, Yu D.   +6 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

Can ammonia scavenging treat MASLD? Evaluating the evidence for L-ornithine L-aspartate-A systematic review. [PDF]

Eur J Clin Invest
Ismaiel A, Ciornolutchii V, Popa SL, Dumitrascu DL.   +3 more
europepmc   +1 more source

Hyperammonemic Encephalopathy Caused by Obstructive Urinary Tract Infection Due to Urease-Positive Corynebacterium riegelii in an Elderly Woman: A Case Report. [PDF]

Cureus
Araya T, Kita T, Higashi T, Hara R, Takato H.   +4 more
europepmc   +1 more source

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

Systemic venous collaterals and congenital portosystemic shunt: Overlooked causes of Glenn shunt failure-A case report. [PDF]

Radiol Case Rep
Bui TD, Phan TT, Luu TLT, Tran PCB, Phan LT.   +4 more
europepmc   +1 more source

Hyperammonemia increases the release of pathological extracellular vesicles from monocytes by impairing lysosomal function and autophagy through the TNFα-cAMP-PKA-LC3 pathway. [PDF]

Front Immunol
Pedrosa MA, Izquierdo-Altarejos P, Llansola M, Felipo V.   +3 more
europepmc   +1 more source

Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case. [PDF]

J Neurosurg Case Lessons
Witt AS, Cava Prado L, Neumann R, Weedman J, Moseley R, Guttipatti P, Ung TH.   +6 more
europepmc   +1 more source

"Why won't the ammonia go down?": ammonia management while on continuous kidney replacement therapy. [PDF]

Pediatr Nephrol
Starr MC, Burnham J, Voivoidas M, Wilson A.   +3 more
europepmc   +1 more source