المؤلفون: Korkmaz, İlayda (AUTHOR), Uçar, Sema Kalkan (AUTHOR), Onay, Hüseyin (AUTHOR), Sözmen, Eser Yıldırım (AUTHOR), Çoker, Mahmut (AUTHOR), Palamar, Melis (AUTHOR)

المصدر: Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi. Jun2024, Vol. 54 Issue 3, p127-132. 6p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *CROSS-sectional method, *EYE, *CATARACT, *EYE care, *TERTIARY care, *BIOCHEMISTRY, *OCULAR manifestations of general diseases, *LONGITUDINAL method, *EYE examination, *HEALTH facilities, *GENETICS, *SYMPTOMS

مصطلحات جغرافية: TURKEY

المؤلفون: Capelli, Irene^1,2 (AUTHOR), Di Costanzo, Roberta^1,2 (AUTHOR), Aiello, Valeria^1,2 (AUTHOR), Lerario, Sarah^1,2 (AUTHOR), De Giovanni, Paola³ (AUTHOR), Montevecchi, Marcello³ (AUTHOR), Cerretani, Davide³ (AUTHOR), Donadio, Vincenzo⁴ (AUTHOR), La Manna, Gaetano^1,2 (AUTHOR) gaetano.lamanna@unibo.it, Mignani, Renzo^2,3 (AUTHOR)

المصدر: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-6. 6p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *GENETIC variation, *LYSOSOMAL storage diseases, *SYMPTOMS, *GLYCOSPHINGOLIPIDS

المؤلفون: Dostalova, Gabriela¹ (AUTHOR) gabriela.dostalova@vfn.cz, Januska, Jaroslav² (AUTHOR), Veselá, Michaela¹ (AUTHOR) david.zemanek@vfn.cz, Reková, Petra³ (AUTHOR), Taborska, Anna⁴ (AUTHOR), Pleva, Martin⁵ (AUTHOR), Zemanek, David¹ (AUTHOR), Linhart, Aleš¹ (AUTHOR)

المصدر: Cardiogenetics. Jun2024, Vol. 14 Issue 2, p74-83. 10p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *X chromosome, *ENZYME replacement therapy, *HYPERTROPHIC cardiomyopathy, *LYSOSOMAL storage diseases, *CHRONIC kidney failure, *ARACHNOID cysts, *SUMATRIPTAN

المؤلفون: Moon, Stephanie S.¹ (AUTHOR) moon0stephanie@gmail.com, Ovens, Christopher A.² (AUTHOR), Reid, Gerard² (AUTHOR), Fraser, Clare L.² (AUTHOR)

المصدر: Neuro-Ophthalmology. Jun2024, Vol. 48 Issue 3, p198-203. 6p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *GLYCOGEN storage disease type II, *OPTICAL coherence tomography, *CHRONIC kidney failure, *LYSOSOMAL storage diseases, *HEART failure, *TREATMENT delay (Medicine)

المؤلفون: Alonso-Núñez, Adrián¹ (AUTHOR) adrian.alonso@iisgaliciasur.es, Pérez-Márquez, Tania¹ (AUTHOR) tania.perez@iisgaliciasur.es, Alves-Villar, Marta¹ (AUTHOR) marta.alves@iisgaliciasur.es, Fernández-Pereira, Carlos¹ (AUTHOR) carlosfernandezpereira@gmail.com, Fernández-Martín, Julián^1,2 (AUTHOR) alberto.jose.rivera.gallego@sergas.es, Rivera-Gallego, Alberto² (AUTHOR), Melcón-Crespo, Cristina^1,3 (AUTHOR) cristina.melcon.crespo@sergas.es, San Millán-Tejado, Beatriz^1,4 (AUTHOR) beatriz.san.millan.tejado@sergas.es, Ruz-Zafra, Aurora⁵ (AUTHOR) dodita85@hotmail.com, Garofano-López, Remedios⁶ (AUTHOR) dra_garofano@hotmail.com, Sánchez-Martínez, Rosario⁷ (AUTHOR) rosariosanmar@gmail.com, García-Payá, Elena⁷ (AUTHOR) garcia_marpayb@gva.es, López-Mendoza, Manuel⁸ (AUTHOR) lolopezmen@gmail.com, Martín-Suárez, Ignacio⁹ (AUTHOR) imsuarez@telefonica.net, Ortolano, Saida¹ (AUTHOR) saida.ortolano@iisgaliciasur.es

المصدر: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p6024. 22p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *DISEASE progression, *ENZYME replacement therapy, *MOLECULAR chaperones, *BIOMARKERS, *GALACTOSIDASES

المؤلفون: Montardi, Camille¹ (AUTHOR) camille.montardi@aphp.fr, Gaudemer, Augustin^2,3 (AUTHOR), Zuber, Mathieu^4,5 (AUTHOR), Vuillemet, Francis⁶ (AUTHOR), Alexandra, Jean‐François⁷ (AUTHOR), Lidove, Olivier¹ (AUTHOR), Mauhin, Wladimir¹ (AUTHOR) wmauhin@hopital‐dcss.org

المصدر: Annals of Clinical & Translational Neurology. Jun2024, Vol. 11 Issue 6, p1430-1441. 12p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *MENINGITIS, *AUTONOMIC nervous system, *NEURALGIA, *MULTIPLE sclerosis, *BACTERIAL meningitis

المؤلفون: Nicholls, Kathleen^1,2, Denaro, Charles^3,4, Tchan, Michel^5,6 mark.thomas@health.wa.gov.au, Ellaway, Carolyn^6,7, Bratkovic, Drago⁸, Campbell, Sheridan⁹, Fookes, Megan¹⁰, Thomas, Mark¹¹

المصدر: Internal Medicine Journal. Jun2024, Vol. 54 Issue 6, p882-890. 9p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *HEALTH services accessibility, *SCALE analysis (Psychology), *CONSENSUS (Social sciences), *RESEARCH funding, *DESCRIPTIVE statistics, *ENZYMES, *ELIGIBILITY (Social aspects), *INTERNAL medicine, *EVIDENCE-based medicine, *DATA analysis software, *GLYCOSIDASES

مصطلحات جغرافية: AUSTRALIA

المؤلفون: Babcock, Michael¹ (AUTHOR) michael.cameron.babcock@gmail.com, Zheng, Jianhong¹ (AUTHOR), Gail Shurr, Jessica¹ (AUTHOR), Li, Li¹ (AUTHOR), Wang, Bing² (AUTHOR), Huertas, Pedro¹ (AUTHOR), Ryan, Philip John³ (AUTHOR), Shen, Yuqiao¹ (AUTHOR), Garovoy, Marvin¹ (AUTHOR)

المصدر: Clinical Pharmacology in Drug Development. Jun2024, Vol. 13 Issue 6, p696-709. 14p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *GAUCHER'S disease, *ENZYME deficiency, *CENTRAL nervous system, *VOLUNTEERS, *LYSOSOMES

المؤلفون: Kugadas, Abirami^1,2 (AUTHOR), Artoni, Pietro³ (AUTHOR), Ruangsiriluk, Wanida^1,4 (AUTHOR), Zhao, Meng³ (AUTHOR), Boukharov, Natalia^1,4 (AUTHOR), Islam, Rizwana^1,4 (AUTHOR), Volfson, Dmitri³ (AUTHOR) kathydk2003@yahoo.com, Derakhchan, Katayoun^1,5 (AUTHOR) kathydk2003@yahoo.com

المصدر: PLoS ONE. 5/31/2024, Vol. 19 Issue 5, p1-17. 17p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *GLOBAL longitudinal strain, *TRANSGENIC mice, *CEREBROVASCULAR disease, *CARDIOVASCULAR diseases

المؤلفون: Duro, Giovanni¹ (AUTHOR), Anania, Monia¹ (AUTHOR), Zizzo, Carmela¹ (AUTHOR) giovanni.duro@irib.cnr.it, Francofonte, Daniele¹ (AUTHOR), Giacalone, Irene¹ (AUTHOR), D'Errico, Annalisa¹ (AUTHOR), Marsana, Emanuela Maria¹ (AUTHOR), Colomba, Paolo¹ (AUTHOR) paolo.colomba@irib.cnr.it

المصدر: International Journal of Molecular Sciences. May2024, Vol. 25 Issue 10, p5158. 9p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *X chromosome, *WOMEN patients, *LYSOSOMAL storage diseases, *DIAGNOSIS, *PATIENTS