المؤلفون: Lipiński, Patryk¹ (AUTHOR) patryk.lipinski.92@gmail.com, Tylki-Szymańska, Anna² (AUTHOR) a.tylki@ipczd.pl

المصدر: Diagnostics (2075-4418). Jun2024, Vol. 14 Issue 12, p1299. 11p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *SYMPTOMS, *GLYCOGEN storage disease type II, *NIEMANN-Pick diseases, *GAUCHER'S disease, *LIVER

المؤلفون: Kuznetsov, Alexander¹ (AUTHOR), Sheshil, Andrey¹ (AUTHOR), Smolin, Eugene¹ (AUTHOR), Grudtsov, Vitaliy¹ (AUTHOR), Ryazantsev, Dmitriy¹ (AUTHOR), Shustinskiy, Mark¹ (AUTHOR), Tikhonova, Tatiana¹ (AUTHOR), Kitiashvili, Irakli² (AUTHOR), Vechorko, Valerii² (AUTHOR), Komarova, Natalia¹ (AUTHOR) nat.v.kom@gmail.com

المصدر: Sensors (14248220). Jun2024, Vol. 24 Issue 11, p3681. 12p.

مصطلحات موضوعية: *FIELD-effect transistors, *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *ENZYME replacement therapy, *NEWBORN screening, *COMPLEMENTARY metal oxide semiconductors

المؤلفون: Tóth, Gergő Dániel¹, Koplányi, Gábor², Kenéz, Balázs², Balogh-Weiser, Diána^1,2 balogh.weiser.diana@vbk.bme.hu

المصدر: Periodica Polytechnica: Chemical Engineering. 2023, Vol. 67 Issue 4, p624-635. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ENZYME replacement therapy, *GLYCOGEN storage disease type II, *ENZYME deficiency, *ANGIOKERATOMA corporis diffusum

المؤلفون: Keyzor, Ian¹ (AUTHOR) ikeyzor@amicusrx.com, Shohet, Simon¹ (AUTHOR), Castelli, Jeff² (AUTHOR), Sitaraman, Sheela² (AUTHOR), Veleva-Rotse, Biliana² (AUTHOR), Weimer, Jill M.³ (AUTHOR), Fox, Brian² (AUTHOR), Willer, Tobias³ (AUTHOR), Tuske, Steve³ (AUTHOR), Crathorne, Louise⁴ (AUTHOR), Belzar, Klara J.⁴ (AUTHOR)

المصدر: Biomolecules (2218-273X). Aug2023, Vol. 13 Issue 8, p1227. 23p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *ENZYME replacement therapy, *GLYCOGEN storage disease type II, *GAUCHER'S disease, *HEAT shock proteins

المؤلفون: Hwu, Wuh-Liang

المصدر: Journal of the Formosan Medical Association; Jul2024, Vol. 123 Issue 7, p738-743, 6p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, ENZYME replacement therapy, HYPERTROPHIC cardiomyopathy, LYSOSOMAL storage diseases, MOLECULAR diagnosis, GLYCOGEN storage disease type II, CARDIOMYOPATHIES

مصطلحات جغرافية: TAIWAN

المؤلفون: Calzoni, Eleonora, Cerrotti, Giada, Sagini, Krizia, Delo, Federica, Buratta, Sandra, Pellegrino, Roberto Maria, Alabed, Husam B. R., Fratini, Federica, Emiliani, Carla, Urbanelli, Lorena

المصدر: Journal of Functional Biomaterials; Jun2024, Vol. 15 Issue 6, p153, 13p

مصطلحات موضوعية: EXTRACELLULAR vesicles, ENZYME replacement therapy, LYSOSOMAL storage diseases, ENZYME deficiency, THERAPEUTICS, POLYMERSOMES

المؤلفون: Dostalova, Gabriela, Januska, Jaroslav, Veselá, Michaela, Reková, Petra, Taborska, Anna, Pleva, Martin, Zemanek, David, Linhart, Aleš

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: Hui-An Chen, Rai-Hseng Hsu, Ching-Ya Fang, Desai, Ankit K., Ni-Chung Lee, Wuh-Liang Hwu, Fuu-Jen Tsai, Kishnani, Priya S., Yin-Hsiu Chien

المصدر: Frontiers in Immunology; 2024, p1-12, 12p

مصطلحات موضوعية: ENZYME replacement therapy, GLYCOGEN storage disease type II, IMMUNOLOGICAL tolerance, TREATMENT effectiveness, LYSOSOMAL storage diseases, THERAPEUTICS

المؤلفون: İnci, Aslı, Ezgü, Fatih Süheyl, Tümer, Leyla

المصدر: Pediatric Drugs; May2024, Vol. 26 Issue 3, p287-308, 22p

مصطلحات موضوعية: ENZYME replacement therapy, IMMUNOLOGICAL tolerance, INBORN errors of metabolism, ORGANELLE formation, LYSOSOMAL storage diseases

المؤلفون: Spataro, Federico¹ (AUTHOR) federico.spataro@uniba.it, Carlucci, Palma¹ (AUTHOR), Loverre, Teresa¹ (AUTHOR), Macchia, Luigi¹ (AUTHOR), Di Bona, Danilo¹ (AUTHOR)

المصدر: Pediatric Allergy & Immunology. Jun2023, Vol. 34 Issue 6, p1-14. 14p.

مصطلحات موضوعية: *ENZYME replacement therapy, *LYSOSOMAL storage diseases, *GLYCOGEN storage disease type II, *ALLERGIES, *TERMINATION of treatment, *ENZYME deficiency