المؤلفون: Huang, Guiwu^1,2,3 (AUTHOR), Jian, Jinlong^1,2 (AUTHOR), Liu, Chuan-Ju^1,2,4 (AUTHOR) chuan-ju.liu@yale.edu

المصدر: Cytokine & Growth Factor Reviews. Apr2024, Vol. 76, p142-159. 18p.

مصطلحات موضوعية: *PROGRANULIN, *LYSOSOMAL storage diseases, *PERIPHERAL nervous system, *PROTEIN microarrays, *MUSCULOSKELETAL system diseases, *DEGENERATION (Pathology)

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: Takahito Moriwaki¹, Seigo Terawaki¹, Takanobu Otomo¹ otomo@med.kawasaki-m.ac.jp

المصدر: Journal of Biological Chemistry. Mar2024, Vol. 300 Issue 3, p1-14. 14p.

مصطلحات موضوعية: *AUTOPHAGY, *LYSOSOMAL storage diseases, *HYDROLASES, *HOMEOSTASIS, *ACIDITY, *CONGENITAL disorders, *COMPREHENSION in children

المؤلفون: Bagh, Maria B.¹, Appu, Abhilash P.¹, Sadhukhan, Tamal¹, Mondal, Avisek¹, Plavelil, Nisha¹, Raghavankutty, Mahadevan¹, Supran, Ajayan M.¹, Sadhukhan, Sriparna¹, Aiyi Liu², Mukherjee, Anil B.¹ mukherja@exchange.nih.gov

المصدر: Journal of Biological Chemistry. Feb2024, Vol. 300 Issue 2, p1-24. 24p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *NEURONAL ceroid-lipofuscinosis, *BLOOD proteins, *PROTEOLYSIS, *MEMBRANE proteins

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: Bulut, Fatma Derya¹ deryaozduran@yahoo.com, Seydaoğlu, Gülşah², Kor, Deniz¹, Kılavuz, Sebile³, Boz, Aslı², Önenli Mungan, Neslihan¹

المصدر: Archives de Pédiatrie. Oct2023, Vol. 30 Issue 7, p450-454. 5p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *HEALTH of adults, *CHRONIC diseases, *SOCIAL problems

مصطلحات جغرافية: TURKEY

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: Tillo, Miguel¹, Lamanna, William C.², Dwyer, Chrissa A.², Sandoval, Daniel R.^2,3, Pessentheiner, Ariane R.¹, Al-Azzam, Norah¹, Sarrazin, Stéphane², Gonzales, Jon C.^2,3, Shih-Hsin Kan^4,5, Andreyev, Alexander Y.⁶, Schultheis, Nicholas⁷, Thacker, Bryan E.⁸, Glass, Charles A.⁸, Dickson, Patricia I.^6,9, Wang, Raymond Y.^10,11, Selleck, Scott B.⁷, Esko, Jeffrey D.^2,12 jesko@health.ucsd.edu, Gordts, Philip L. S. M.^1,2,12 pgordts@health.ucsd.edu

المصدر: Journal of Biological Chemistry. Aug2022, Vol. 298 Issue 8, p1-15. 15p.

مصطلحات موضوعية: *BROWN adipose tissue, *LYSOSOMAL storage diseases, *HYPERTRIGLYCERIDEMIA, *LYSOSOMES, *ADIPOSE tissues, *HEPARAN sulfate, *AUTOPHAGY, *ADIPOSE tissue physiology

المؤلفون: Chabraoui, L.¹ (AUTHOR), Talbaoui, H.¹ (AUTHOR), Dahri, S.¹ (AUTHOR), Benchekroun, L.¹ (AUTHOR)

المصدر: Clinica Chimica Acta. 2024 Supplement 1, Vol. 558, pN.PAG-N.PAG. 1p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *EPIDEMIOLOGY

المؤلفون: van Gool, Raquel^1,2 (AUTHOR), Tucker-Bartley, Anthony^1,3 (AUTHOR), Yang, Edward⁴ (AUTHOR), Todd, Nicholas^1,5 (AUTHOR), Guenther, Frank⁶ (AUTHOR), Goodlett, Benjamin⁷ (AUTHOR), Al-Hertani, Walla⁷ (AUTHOR), Bodamer, Olaf A.⁷ (AUTHOR), Upadhyay, Jaymin^1,8 (AUTHOR) jaymin.upadhyay@childrens.harvard.edu

المصدر: Trends in Pharmacological Sciences. Jun2022, Vol. 43 Issue 6, p495-509. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *BLOOD-brain barrier, *HUMAN abnormalities, *NEURAL circuitry