Results 131 to 140 of about 9,482 (191)

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry. [PDF]

Int J Neonatal Screen
Yahyaoui R, Quijada-Fraile P, Blasco-Alonso J, Vives I, Gil Ortega D, Couce ML, Sánchez-Pintos P, García Jiménez MC, Meavilla Olivas S, García Volpe C, de Los Santos Mercedes M, García-Cazorla Á, Felipe-Rucián A, Dougherty-de Miguel L, Morais López A, Bergua Martínez A, Andrade Guerrero JD, Stanescu S, Belanger A, Gil-Campos M, Comino Monroy MJ, Bellusci M, Pérez-Mohand P, Barrio-Carreras D, Pérez B, Martín-Hernández E.   +25 more
europepmc   +1 more source

MASLD-Induced Hyperammonemia With Atypical, Restricted Diffusion Pattern Suggesting Mixed Metabolic and Hypoxic-Anoxic Injury. [PDF]

HCA Healthc J Med
Thomas R, Nguyen NT, Bao D, Tang J, Ali U, Cao D.   +5 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 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

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

Endovascular closure of a large intrahepatic portosystemic shunt in a three-month-old infant: a case report and literature review. [PDF]

Front Pediatr
Semash K, Salakhitdinov S, Nasirov M, Dzhanbekov T, Yusubov A, Umarov B.   +5 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