Results 41 to 50 of about 2,332 (156)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Gaucher's disease in children: Case report from Afghanistan with literature review

Global Pediatrics, 2023
Introduction and importance: Gaucher's disease (GD) or lysosomal storage disease, is one of the rare genetic disorders resulting from glucocerebrosidase deficiency.
Turyalai Hakimi, Omran Omar Amarkhil, Muhammad Arif Zamani, Mansoor Aslamzai, Salmai Turial, Mohammad Tareq Rahimi, Mohammad Anwar Jawed   +6 more
doaj   +1 more source

Fibromyalgia and Gaucher's disease [PDF]

QJM: An International Journal of Medicine, 2005
Patients with symptomatic Gaucher's disease sometimes have non-specific symptoms (such as general malaise with widespread musculoskeletal pains) that respond poorly to enzyme replacement treatment. These may indicate fibromyalgia syndrome; if so, other therapeutic options might be more appropriate.To identify patients with Gaucher's disease for whom ...
A, Brautbar, D, Elstein, B, Pines, N, Krienen, J, Hemmer, D, Buskila, A, Zimran   +6 more
openaire   +2 more sources

God's Presence in the Aisle: How God Salience Encourages Preference for Ultra‐Processed Foods

Psychology &Marketing, EarlyView.
ABSTRACT God‐related cues are pervasive in consumers' daily lives, yet little research has examined how God salience shapes consumer food choices. Drawing on compensatory control theory and the literature on symbolic healing, we present findings from six studies, including a field experiment, demonstrating that high (vs.
Ali Gohary, Hean Tat Keh
wiley   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +1 more source

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

The structure of cerebrosides in Gaucher's disease*

Journal of Lipid Research, 1960
Crystalline cerebrosides were isolated from the spleen of a woman with Gaucher's disease. The cerebrosides accounted for 38 per cent of the total spleen lipids and 0.89 per cent of the fresh spleen.
G.V. Marinetti, T. Ford, Elmer Stotz
doaj   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Lipids of the spleen in Gaucher's disease

Journal of Lipid Research, 1965
Thin-layer chromatography (TLC) was used to analyze lipids of eight spleens of patients with Gaucher's disease. Four non-Gaucher spleens were also analyzed.
William D. Suomi, Bernard W. Agranoff
doaj   +1 more source