المؤلفون: Muñoz-Oreja, Mikel^1,2,3 (AUTHOR), Sandoval, Abigail⁴ (AUTHOR), Bruland, Ove⁵ (AUTHOR), Perez-Rodriguez, Diego⁶ (AUTHOR), Fernandez-Pelayo, Uxoa¹ (AUTHOR), Arbina, Amaia Lopez de¹ (AUTHOR), Villar-Fernandez, Marina¹ (AUTHOR), Hernández-Eguiazu, Haizea¹ (AUTHOR), Hernández, Ixiar² (AUTHOR), Park, Yohan⁴ (AUTHOR), Goicoechea, Leire^7,8,9 (AUTHOR), Pascual-Frías, Nerea^1,10 (AUTHOR), Garcia-Ruiz, Carmen^7,8,9 (AUTHOR), Fernandez-Checa, Jose^7,8,9,11 (AUTHOR), Martí-Carrera, Itxaso^1,2,3,12 (AUTHOR), Gil-Bea, Francisco Javier¹ (AUTHOR), Hasan, Mazahir T^13,14 (AUTHOR), Gegg, Matthew E⁶ (AUTHOR), Bredrup, Cecilie^15,16 (AUTHOR), Knappskog, Per-Morten¹⁷ (AUTHOR)

المصدر: Brain: A Journal of Neurology. May2024, Vol. 147 Issue 5, p1899-1913. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *CHOLESTEROL, *CHOLESTEROL metabolism, *CELL membranes, *GLYCOGEN storage disease type II

المؤلفون: Braulke, Thomas¹ (AUTHOR), Carette, Jan E.² (AUTHOR), Palm, Wilhelm^1,3 (AUTHOR) w.palm@dkfz-heidelberg.de

المصدر: Trends in Cell Biology. Mar2024, Vol. 34 Issue 3, p198-210. 13p.

مصطلحات موضوعية: *GOLGI apparatus, *LYSOSOMAL storage diseases, *ENZYMES, *GENETIC disorders, *SKELETAL abnormalities

المؤلفون: Gauthier, Corentin^1,2 (AUTHOR), El Cheikh, Khaled¹ (AUTHOR), Basile, Ilaria¹ (AUTHOR), Daurat, Morgane¹ (AUTHOR), Morère, Elodie^1,2 (AUTHOR), Garcia, Marcel¹ (AUTHOR), Maynadier, Marie¹ (AUTHOR), Morère, Alain² (AUTHOR), Gary-Bobo, Magali^1,2 (AUTHOR) magali.gary-bobo@umontpellier.fr

المصدر: Journal of Controlled Release. Jan2024, Vol. 365, p759-772. 14p.

مصطلحات موضوعية: *MANNOSE, *LYSOSOMAL storage diseases, *TRP channels

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: Celestina Vanaja, Maria¹, Jain, Jamal Mohammed Nurul¹, Dalal, Ashwin¹, Ranganath, Prajnya^1,2 prajnyaranganath@gmail.com

المصدر: Indian Journal of Medical Research. Jun2023, Vol. 157 Issue 6, p577-590. 19p.

مصطلحات موضوعية: *NUCLEOTIDE sequencing, *LYSOSOMAL storage diseases, *GENETIC testing, *GLYCOGEN storage disease type II, *ENZYME deficiency, *GENETIC variation

المؤلفون: El-Hage, Nazira¹ (AUTHOR) nelhage@fiu.edu, Haney, Matthew J.^2,3 (AUTHOR) mjhaney@email.unc.edu, Zhao, Yuling^2,3 (AUTHOR) cjswain@ad.unc.edu, Rodriguez, Myosotys¹ (AUTHOR) myrodrig@fiu.edu, Wu, Zhanhong⁴ (AUTHOR) zhhwu@ad.unc.edu, Liu, Mori³ (AUTHOR), Swain, Carson J.³ (AUTHOR), Yuan, Hong⁴ (AUTHOR) yuanh@ad.unc.edu, Batrakova, Elena V.^2,3 (AUTHOR) batrakov@ad.unc.edu

المصدر: Cells (2073-4409). Jun2023, Vol. 12 Issue 11, p1497. 24p.

مصطلحات موضوعية: *EXTRACELLULAR vesicles, *LYSOSOMAL storage diseases, *LABORATORY mice, *NEURONAL ceroid-lipofuscinosis, *ANIMAL disease models, *AUTOPHAGY, *VESICLES (Cytology)

المؤلفون: Banning, Antje¹ (AUTHOR), Laine, Minna² (AUTHOR), Tikkanen, Ritva¹ (AUTHOR) ritva.tikkanen@biochemie.med.uni-giessen.de

المصدر: International Journal of Molecular Sciences. Mar2023, Vol. 24 Issue 6, p5722. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *BIOMARKERS, *SERUM, *GENETIC disorders, *TREATMENT effectiveness, *CLINICAL trials

المؤلفون: Bianco, Valentina, Kratky, Dagmar

المصدر: Experimental & Clinical Endocrinology & Diabetes; Dec2023, Vol. 131 Issue 12, p639-645, 7p

مصطلحات موضوعية: MICROPHTHALMIA-associated transcription factor, WHITE adipose tissue, LYSOSOMAL storage diseases, OBESITY, MEMBRANE proteins

المؤلفون: Xiao, Changrui¹ (AUTHOR) changrui.xiao@gmail.com, Koziura, Mary² (AUTHOR), Cope, Heidi³ (AUTHOR), Spillman, Rebecca³ (AUTHOR), Tan, Khoon³ (AUTHOR), Hisama, Fuki M.⁴ (AUTHOR), Tifft, Cynthia J.¹ (AUTHOR), Toro, Camilo¹ (AUTHOR)

المصدر: Molecular Genetics & Genomic Medicine. Sep2022, Vol. 10 Issue 9, p1-8. 8p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ADULTS, *LYSOSOMES

المؤلفون: Fahmy, Eman M.¹, Abdelkreem, Elsayed¹ d.elsayedmohammed@med.sohag.edu.eg, Mohamed, Osama E.¹, Abosdera, Mostafa M.¹, Sadek, Abdelrahim A.¹

المصدر: Egyptian Journal of Hospital Medicine. Jul2022, Vol. 88, p3069-3077. 9p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *EGYPTIANS, *INBORN errors of metabolism, *GLYCOGEN storage disease type II, *NIEMANN-Pick diseases, *GAUCHER'S disease