Results 81 to 90 of about 3,665 (213)

A rare treatable cause for atypical frontotemporal dementia with multiple fractures in a young female

Journal of Geriatric Mental Health, 2018
Frontal and temporal lobe involvement in young people is seen in infections like neurosyphilis, Vitamin B12 deficiency, NPH, tumors and neurometabolic disorders apart from neurodegenerative dementias. Involvement of other parts of neuraxis in addition to
Sadanandavalli Retnaswami Chandra, Neeraja Koti, Ganaraja Valakunja Harikrishna, Pooja Mailankody, C Nitin Ramanujam, S Mathuranath Pavagada, Thomas Gregor Issac   +6 more
doaj   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical or physiological function, and adverse effects of the disorder can be attributed to the lack of this metabolite. Thus, there is the opportunity for treatment by ‘product replacement’. One of the disorders in the pathways
Peter T. Clayton, Rohit Hirachan, Elaine Murphy   +2 more
wiley   +1 more source

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases [PDF]

, 2015
Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation.
A D’Abreu, A Ginestroni, A Ieraci, A Inagaki, A Kelp, A Nocuń, A Poretti, A Poretti, A Rolfs, A Solodkin, A Varrone, AC Stanfield, AG Asokan, AJ Barkovitch, AJ Clapp, Alessandra Vella, Allison Jack, AM Tadesco, AM Wong, Andrea P. Jackowski, Andrea Righini, AR Luft, AR Luft, B Kuemerle, B Soong, BC Jung, C Andrés De, C Cheung, C Garel, C Good, C Jacova, C Limperopoulos, C Lukas, C Moller, C Parazzini, C Scaglione, CC Parker, Cecilia Parazzini, CH Lyoo, Christophe Habas, CJ Stoodley, CW Yoon, D Beitzke, DJG Schutter, DL Vargas, DS Woodruff-Park, E Apartis, E Canu, E Courchesne, E Matsusue, E Matsusue, E Pagani, E Prodi, ED Vidoni, F Brancati, F D’Agata, F Eichler, G Malinger, G Tedeschi, GS Young, H Akhlaghi, H Akhlaghi, H Jacobi, HB Cleavinger, I Ferrer, I Iltis, I Sousa, ID Wilkinson, J Honnorat, J Mazere, J Skefos, J Wegiel, JA Brunberg, JB Schulz, JL Whitwell, JM Kim, Jörg B. Schulz, K Andersen, K Brockmann, K Burk, K Burk, K Ishii, K Lasek, K Nanri, K Nanri, K Pierce, K Reetz, K Reetz, K Reetz, K Reetz, K Specht, K-D Choi, Kathrin Reetz, KB Loh, L Baldaçara, L Ji, L Schols, LA Corben, Leonardo Baldarçara, LI Wallis, LR Ramos, LSK Hokkanen, M Abele, M Anheim, M Bricout, M Catani, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Mascalchi, M Minnerop, M Rapoport, M Sjobeck, M Verly, M Walterfang, M Walterfang, M. Hadjivassiliou, MA Cheh, Mario Mascalchi, MC Bianchi, ME Steenweg, MR Hatab, N Boddaert, N Gharani, N Kimura, N Kimura, N Kimura, N Ramnani, N Stefano De, Nigel Hoggard, O Bas, OS Cohen, P Braga-Neto, P Brown, P Wang, PA Thomann, PS Wang, R Cabeza, R Della Nave, R Della Nave, R Hashimoto, R Scheid, R Sui, S Alcauter, S Basu, S Currie, S Currie, S Currie, S Currie, S Dohlinger, S Gilman, S Gilman, S Nagamitsu, S Ortega-Cuberoa, S Tanaka, SA Cooper, Sara Jane Webb, SH Fatemi, SH Fatemi, SH Fatemi, SH Fatemi, SJ Webb, SM Boesch, SM Ravizza, Stuart Currie, T Klockgether, T Tarui, T Wu, TD Miller, W Scharmüller, WR Kates, Y Bruecker De, Y Daaboul, Y Hosoi, Y Sunaga   +176 more
core   +1 more source

Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Bile acid synthesis defects (BASDs) comprise a group of rare, often severe, metabolic disorders. Bile acid replacement therapy decreases toxic bile acid intermediates production and improves biochemical profiles, potentially delaying or stabilizing disease progression.
Yasmin Polak, Elles Marleen Kemper, Marc Engelen, Femke C. C. Klouwer, Kevin Berendse, Frédéric M. Vaz, Bart G. P. Koot, Eleonora (Noortje) L. Swart, Carla E. M. Hollak   +8 more
wiley   +1 more source

Liver mitochondrial P450 involved in cholesterol catabolism and vitamin D activation.

Journal of Lipid Research, 1994
The isolation, purification, and cloning of the mitochondrial P450 enzyme catalyzing not only the 27-hydroxylation of 5 beta-cholestane-3 alpha, 7 alpha-diol and cholestane-3 alpha, 7 alpha, 12 alpha-triol, but also the 25-hydroxylation of vitamin D3 are
K I Okuda
doaj   +1 more source

A rare disease gets a breakthrough: Ctexli approved for cerebrotendinous xanthomatosis [PDF]

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid storage disorder caused by mutations in the CYP27A1 gene, leading to sterol 27-hydroxylase deficiency and cholestanol accumulation.
Ahmud, Mohammud W., Asim, Wajiha, Mustafa, Muhammad   +2 more
core   +2 more sources

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Side-chain oxidized oxysterols as metabolic regulators in liver and brain [PDF]

, 2014
Oxysterols are oxygenated derivatives of cholesterol characterized by a very short half-life and their ability to pass lipophilic membranes easily, thus they are considered as important intermediates in cholesterol excretion pathways and its ...
Ali, Zeina M. F.
core   +1 more source

Comparing glaucoma risk in children receiving low‐dose and high‐dose glucocorticoid treatment after cataract surgery

Acta Ophthalmologica, Volume 103, Issue 1, Page 43-49, February 2025.
Abstract Purpose Treatment with glucocorticoids following paediatric cataract surgery is crucial to prevent inflammation, but may lead to secondary glaucoma, and hypothalamic–pituitary–adrenal axis suppression. We wish to compare glaucoma outcomes following high‐dose and low‐dose glucocorticoid treatment after paediatric cataract surgery.
Diana Chabané Schmidt, Torben Martinussen, Ameenat Lola Solebo, Dorte Ancher Larsen, Daniella Bach‐Holm, Line Kessel   +5 more
wiley   +1 more source