Results 271 to 280 of about 197,800 (388)
Brain Age in Adult Patients With Early‐Treated Phenylketonuria
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT
Structural brain alterations have been observed in individuals with phenylketonuria (PKU); however, the potential impact of PKU on brain aging remains unexplored. This study investigated brain age in adults with early‐treated classical PKU compared to healthy controls. Thirty early‐treated adults with classical PKU (age 19–48 years) and 59 age‐Laura Winiger, Raphaela Muri, Tobias Kaufmann, Michel Hochuli, Emma Vardy, Piotr Radojewski, Katarzyna Pospieszny, Roman Trepp, Regula Everts +8 morewiley +1 more sourceSources of disconnection in neurocognitive aging: cerebral white-matter integrity, resting-state functional connectivity, and white-matter hyperintensity volume.
Neurobiology of Aging, 2017 D. Madden, Emily L. Parks, Catherine W Tallman, Maria A. Boylan, David A. Hoagey, Sally B. Cocjin, Lauren E. Packard, Micah A. Johnson, Y. Chou, G. Potter, N. Chen, Rachel E. Siciliano, Zachary A. Monge, Jesse A. Honig, Michele T. Diaz +14 moresemanticscholar +1 more sourceWhite matter hyperintensities precede other biomarkers in GRN frontotemporal dementia [PDF]
Soltaninejad, M, Dadar, M, Collins, DL, Rajabli, R, Venkatraghavan, V, Bouzigues, A, Russell, LL, Foster, PH, Ferry‐Bolder, E, van Swieten, JC, Jiskoot, LC, Seelaar, H, Sanchez‐Valle, R, Laforce, R, Graff, C, Galimberti, D, Vandenberghe, R, de Mendonça, A, Tiraboschi, P, Santana, I, Gerhard, A, Levin, J, Nacmias, B, Otto, M, Butler, CR +24 moreopenalex Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT
Arginase 1 deficiency (ARG1D) is the least common urea cycle disorder. Neonatal onset is rarely described, and hyperammonemic coma is less common in patients with ARG1D compared to other urea cycle disorders. In recent years, we diagnosed a high number of ARG1D patients in Mayotte, an insular (Comoro Islands) department of France.Aurélie De Bruyne, Apolline Imbard, Charles‐Joris Roux, Abdourhahim Chamouine, Camille Schwab, Anaïs Brassier, Jean‐Baptiste Arnoux, Juliette Bouchereau, Cécile Laroche‐Raynaud, Tristan Mekdade, Margaux Gaschignard, Claire‐Marine Berat, Clément Pontoizeau, Stéphanie Gobin‐Limballe, Pascale de Lonlay, Jean‐François Benoist, Manuel Schiff +16 morewiley +1 more sourceAcute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35‐Patient French Cohort
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT
Transplantation is an effective therapeutic option to improve quality of life in patients with severe methylmalonic acidemia (MMA). However, data regarding neurological complications following transplantation remain limited. A retrospective, single‐center study was conducted at Necker Hospital (France), including MMA patients who underwent ...Adélaïde Vissac, Eugénie Sarda, Charles‐Joris Roux, Manuel Schiff, Claire‐Marine Bérat, Juliette Bouchereau, Jean‐Baptiste Arnoux, Chloé de Puyraimond, Margaux Gaschignard, Tristan Mekdade, Ugo Cucinotta, Claire Mayer, Valérie Barbier, Jean François Benoist, Mehdi Oualha, Carmen Capito, Christophe Chardot, Myriam Dao, Aude Servais, Claire Francoz, Laurène Dehoux, Florence Lacaille, Isabelle Desguerre, Nathalie Boddaert, Pascale de Lonlay, Anaïs Brassier +25 morewiley +1 more sourceVENOUS COLLAGENOSIS, WHITE MATTER HYPERINTENSITY AND THE PERIVASCULAR SPACE
Cerebral Circulation - Cognition and BehaviorDavid Lahna, Daniel Schwartz, Randy Woltjer, Sandra Black, Natalie Roese, Hiroko Dodge, Erin Boespflug, Julia Keith, Fuqiang Gao, Joel Ramirez, Lisa Silbert +10 moredoaj +1 more sourceWhite matter hyperintensity burden predicts domain-specific cognitive decline across the Alzheimer's disease continuum. [PDF]
Sci RepNasiri H, Khosravi F, Saberian P, Kavian M, Mozafar M, Torabi P, Malekzadeh T, Hadavi SM, Rezaee A, Ghorbanalinejad M, Heidari Z, Zangene D, Abdi M, Houshyar M, Habibzadeh A, Bemanalizadeh M. +15 moreeuropepmc +1 more source