Results 61 to 70 of about 971 (147)

Disorders of fatty acid homeostasis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders   +3 more
wiley   +1 more source

Vitamin A, systemic T-cells, and the eye: Focus on degenerative retinal disease

Frontiers in Nutrition, 2022
The first discovered vitamin, vitamin A, exists in a range of forms, primarily retinoids and provitamin carotenoids. The bioactive forms of vitamin A, retinol and retinoic acid, have many critical functions in body systems including the eye and immune ...
Arun J. Thirunavukarasu, Arun J. Thirunavukarasu, A. Catharine Ross, Rose M. Gilbert, Rose M. Gilbert   +4 more
doaj   +1 more source

Asymmetric Inter-Eye Progression in Stargardt Disease [PDF]

, 2016
Contains fulltext : 168272.pdf (Publisher’s version ) (Open Access)Purpose: Asymmetry in disease progression between left and right eyes can occur in Stargardt disease (STGD1), and this needs to be considered in novel therapeutic trials
Bax, N.M., Klevering, B.J., Lambertus, S., Cremers, F.P.M., Groenewoud, J.M.M., Theelen, T., Hoyng, C.B., Wilt, G.J. van der   +7 more
core   +2 more sources

Visual functioning and generic health in Stargardt disease (STGD1):a crosssectional study

Purpose : To investigate the impact of Stargardt disease (STGD1) on daily life functioning in terms of vision-related and generic health-related quality of life.Methods : In this cross-sectional study, 100 STGD1 patients completed two questionnaires ...
Hoyng, Carel C. B., van Heugten, Caroline M., Pas, Jeroen A. A. H., Li, Catherina, Ye, Lena, Cinque, Francesco, Bax, Nathalie M., Lambertus, Stanley, Dhooge, Patty P. A.   +8 more
core   +2 more sources

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease

Cells
Precision medicine is rapidly gaining recognition in the field of (ultra)rare conditions, where only a few individuals in the world are affected. Clinical trial design for a small number of patients is extremely challenging, and for this reason, the ...
Nuria Suárez-Herrera, Catherina H. Z. Li, Nico Leijsten, Dyah W. Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P. M. Cremers, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin   +10 more
doaj   +1 more source

Stargardt Disease Due to an Intronic Mutation in the ABCA4: A Case Report

International Medical Case Reports Journal, 2022
Ambar Lugo-Merly,1 Leonardo J Molina Thurin,2 Natalio J Izquierdo-Encarnacion,3 Stella M Casillas-Murphy,4 Armando Oliver-Cruz5 1School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico; 2San Juan Bautista School of ...
Lugo-Merly A, Molina Thurin LJ, Izquierdo-Encarnacion NJ, Casillas-Murphy SM, Oliver-Cruz A   +4 more
doaj  

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

, 2018
PURPOSE. Stargardt disease (STGD1). the most common early-onset recessive macular degeneration, is caused by mutations in the gene encoding the ATP-binding cassette transporter ABCA4.
David Maberley, Lyons, Christopher J., Kailun Jiang, Stöhr, Heidi, Weber, Bernhard H., Fabian Garces, Molday, Laurie L., Laurie L. Molday, Christopher J. Lyons, Heidi Stöhr, Robert S. Molday, Maberley, David, Molday, Robert S., Jiang, Kailun, Bernhard H. Weber, Garces, Fabian   +15 more
core   +1 more source

The common ABCA4 variant p.Asn1868ile shows nonpenetrance and variable expression of stargardt disease when present in trans with severe variants [PDF]

, 2018
PURPOSE. To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants. METHODS.
Pott, J.-W.R. (Jan-Willem R.), Rohrschneider, K. (Klaus), Plomp, A. (Astrid), Roosing, S. (Susanne), Blokland, E.A.W. (Ellen), Born, L.I. (Ingeborgh) van den, Hoyng, C.B. (Carel), Jacobs-Camps, M.H.M. (Marlie H. M.), Sangermano, R. (Riccardo), Bax, N.M. (Nathalie), Cornelis, S.S. (Stéphanie S.), Boon, C.J.F. (Camiel), Lugtenberg, D. (Dorien), Thiadens, A.A.H.J. (Alberta), van der Velde-Visser, S.D. (Saskia D.), Runhart, E.H. (Esmee H.), Cremers, F.P.M. (Frans), Klaver, C.C.W. (Caroline), Verheij, J.B. (Joke)   +18 more
core   +4 more sources

Monitoring and Management of the Patient with Stargardt Disease

Clinical Optometry, 2019
Maria Vittoria Cicinelli, Marco Battista, Vincenzo Starace, Maurizio Battaglia Parodi, Francesco Bandello Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, ItalyCorrespondence: Maria Vittoria CicinelliDepartment of ...
Cicinelli MV, Battista M, Starace V, Battaglia Parodi M, Bandello F   +4 more
doaj  

Autosoom-retsessiivne Stargardti tõbi: fenotüübiline heterogeensus ja genotüübi-fenotüübi seosed [PDF]

, 2017
Väitekirja elektrooniline versioon ei sisalda publikatsiooneStargardti tõbi (STGD1) on kõige sagedasem pärilik võrkkesta kollatähni düstroofia põhjustades progresseeruvat nägemislangust sageli juba lapseeast.
Nõupuu, Kalev
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