Results 151 to 160 of about 41,607 (263)

Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders. [PDF]

J Inherit Metab Dis
Coughlin CR, Barber J, Murali CN, Members of the Urea Cycle Disorders Consortium (UCDC), Wilkening G.   +4 more
europepmc   +1 more source

Challenges in the diagnosis and management of urea cycle disorders in Romanian children. [PDF]

Med Pharm Rep, 2021
Pop TL, Grama A, Miclea D, Vulturar R, Benţa G, Grigore M, Simu C.   +6 more
europepmc   +1 more source

Idiopathic Intracranial Hypertension Is Characterized by a Distinct Proteomic Profile

Annals of Neurology, EarlyView.
Objectives The pathophysiology of idiopathic intracranial hypertension (IIH) is poorly understood and disease‐specific biomarkers are lacking. We aimed to shed light on IIH pathophysiology and identify disease‐specific biomarkers. Methods This prospective cross‐sectional cohort study included patients with new‐onset IIH and age‐, body mass index‐, and ...
Santosh D. Bhosale, Arkadiusz Nawrocki, Johanne J. Korsbæk, Nadja S. Hansen, Fabian Foettinger, Nik Krajnc, Mathias J. Norvig, Niclas L. Eriksen, Stefan Macher, Berthold Pemp, Connar S.J. Westgate, Christian B. Pedersen, Frantz R. Poulsen, Sune Munthe, Gabriel Bsteh, Martin R. Larsen, Rigmor H. Jensen, Dagmar Beier   +17 more
wiley   +1 more source

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

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

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders. [PDF]

JIMD Rep, 2022
Yeo M, Rehsi P, Dorman M, Grunewald S, Baruteau J, Chakrapani A, Footitt E, Prunty H, McSweeney M.   +8 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

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study. [PDF]

JIMD Rep
Wada Y, Furujo M, Kashimada K, Hamazaki T, Nyuzuki H, Ichimoto K, Kakiuchi T, Matsumoto S, Watanabe Y, Ono C, Shimizu T, Furukawa H, Nakamura K.   +12 more
europepmc   +1 more source

Fifteen years of urea cycle disorders brain research: Looking back, looking forward. [PDF]

Anal Biochem, 2022
Sen K, Whitehead M, Castillo Pinto C, Caldovic L, Gropman A.   +4 more
europepmc   +1 more source

Prevalence of fibrosis in hepatic explants and biopsies from individuals with urea cycle disorders. [PDF]

Mol Genet Metab
Ali S, Nisar A, Zhang A, Nagamani S, Aceves-Ewing NM, Rawls B, Quan T, Enns G, Goss J, Leung DH, Shneider BL, Jain S, Hazard FK, Schady D, Burrage LC.   +14 more
europepmc   +1 more source