المؤلفون: Venkatarangan, Varsha¹, Weichao Zhang¹, Xi Yang¹, Thoene, Jess², Si Houn Hahn³, Ming Li¹ mlium@umich.edu

المصدر: Journal of Clinical Investigation. 10/2/2023, Vol. 133 Issue 19, p1-16. 16p.

مصطلحات موضوعية: *INDIVIDUALIZED medicine, *LYSOSOMAL storage diseases, *GLYCOGEN storage disease type II, *CHEMICAL testing, *CYSTINE, *PATHOGENESIS, *PULMONARY alveolar proteinosis

المؤلفون: ter Huurne, Menno^1,2,3 (AUTHOR), Parker, Benjamin L.^4,5 (AUTHOR), Liu, Ning Qing⁶ (AUTHOR), Qian, Elizabeth Ling¹ (AUTHOR), Vivien, Celine¹ (AUTHOR), Karavendzas, Kathy¹ (AUTHOR), Mills, Richard J.^1,2,7,8 (AUTHOR), Saville, Jennifer T.⁹ (AUTHOR), Abu-Bonsrah, Dad¹ (AUTHOR), Wise, Andrea F.¹⁰ (AUTHOR), Hudson, James E.⁷ (AUTHOR), Talbot, Andrew S.¹¹ (AUTHOR), Finn, Patrick F.¹² (AUTHOR), Martini, Paolo G.V.¹² (AUTHOR), Fuller, Maria⁹ (AUTHOR), Ricardo, Sharon D.¹⁰ (AUTHOR), Watt, Kevin I.^1,2,4 (AUTHOR), Nicholls, Kathy M.¹⁰ (AUTHOR), Porrello, Enzo R.^1,2,3,4,13 (AUTHOR) enzo.porrello@mcri.edu.au, Elliott, David A.^1,2,3,13,14 (AUTHOR) david.elliott@mcri.edu.au

المصدر: American Journal of Human Genetics. Sep2023, Vol. 110 Issue 9, p1600-1605. 6p.

مصطلحات موضوعية: *GALACTOSIDASES, *LYSOSOMAL storage diseases, *INDUCED pluripotent stem cells, *ANGIOKERATOMA corporis diffusum, *MESSENGER RNA, *RNA

المؤلفون: San Millán-Tejado, Beatriz^1,2,3 (AUTHOR) beatriz.san.millan.tejado@sergas.es, Navarro, Carmen² (AUTHOR), Fernández-Martín, Julián^1,4 (AUTHOR) alberto.rivera.gallego@sergas.es, Rivera, Alberto^4,5 (AUTHOR), Viéitez, Irene¹ (AUTHOR) susana.teijeira.bautista@sergas.es, Teijeira, Susana¹ (AUTHOR), Ortolano, Saida¹ (AUTHOR) beatriz.san.millan.tejado@sergas.es

المصدر: Journal of Clinical Medicine. Sep2023, Vol. 12 Issue 17, p5689. 16p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *LYSOSOMAL storage diseases, *SKIN biopsy, *GLYCOGEN storage disease type II, *BIOPSY

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: Pierzynowska, Karolina¹ (AUTHOR), Deresz, Patrycja¹ (AUTHOR), Węgrzyn, Grzegorz¹ (AUTHOR), Gaffke, Lidia¹ (AUTHOR) lidia.gaffke@ug.edu.pl

المصدر: Metabolic Brain Disease. Aug2023, Vol. 38 Issue 6, p2133-2144. 12p.

مصطلحات موضوعية: *GENETIC code, *LYSOSOMAL storage diseases, *TRANSCRIPTOMES, *PROTEINS, *METABOLIC disorders

المؤلفون: Paul, D. Meshach¹ (AUTHOR), Chandrasekhar, G.¹ (AUTHOR), Srinivasan, E.² (AUTHOR), Sekar, P. Chandra¹ (AUTHOR) rrajasekaran@vit.ac.in, Lavinya, B. Udhaya³ (AUTHOR), Rajasekaran, R.¹ (AUTHOR) rrajasekaran@vit.ac.in

المصدر: Journal of Computational Biophysics & Chemistry. Aug2023, Vol. 22 Issue 5, p589-603. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MOLECULAR chaperones, *GENETIC disorders, *DATABASES

المؤلفون: Ellezam, Benjamin^1,2 (AUTHOR) benjamin.ellezam@umontreal.ca, Kaseka, Matsanga L.^3,4 (AUTHOR), Nguyen, Dang Khoa^4,5 (AUTHOR), Michaud, Jean⁶ (AUTHOR)

المصدر: Acta Neuropathologica. Aug2023, Vol. 146 Issue 2, p337-352. 16p.

مصطلحات موضوعية: *LIPIDOSES, *LYSOSOMAL storage diseases, *NEURONAL ceroid-lipofuscinosis, *PEROXISOMAL disorders, *PATHOLOGY, *LIPIDS, *FERRITIN

المؤلفون: Martínez-Duncker, Iván, Doederlein-Schwartz, Ida Vanessa, Abreu-González, Melania, García-Ortiz, José Elías

المصدر: Frontiers in Genetics; 2024, p1-4, 4p

مصطلحات موضوعية: INBORN errors of metabolism, LYSOSOMES, GLYCOGEN storage disease type II, CONGENITAL myasthenic syndromes, LYSOSOMAL storage diseases

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: Dobert, Jan Philipp, Bub, Simon, Mächtel, Rebecca, Januliene, Dovile, Steger, Lisa, Regensburger, Martin, Wilfling, Sibylle, Chen, Jia‐Xuan, Dejung, Mario, Plötz, Sonja, Hehr, Ute, Moeller, Arne, Arnold, Philipp, Zunke, Friederike

المصدر: Advanced Science; 7/3/2024, Vol. 11 Issue 25, p1-18, 18p

مصطلحات موضوعية: PARKINSON'S disease, MEMBRANE proteins, GAUCHER'S disease, LYSOSOMAL storage diseases, PEPTIDES