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: LeVine, Steven M.¹ (AUTHOR) slevine@kumc.edu

المصدر: Cells (2073-4409). Nov2023, Vol. 12 Issue 22, p2641. 23p.

مصطلحات موضوعية: *ALZHEIMER'S disease, *LYSOSOMAL storage diseases, *IRON deficiency, *TRANSFERRIN, *TRANSFERRIN receptors, *IRON in the body, *IRON

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: 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

المؤلفون: Montanari, Chiara, Tagi, Veronica Maria, D'Auria, Enza, Guaia, Vincenzo, Di Gallo, Anna, Ghezzi, Michele, Verduci, Elvira, Fiori, Laura, Zuccotti, Gianvincenzo

المصدر: Children; Jun2024, Vol. 11 Issue 6, p668, 22p

مصطلحات موضوعية: TREATMENT of rare diseases, LUNG disease diagnosis, LUNG disease treatment, DIFFERENTIAL diagnosis, RARE diseases, NIEMANN-Pick diseases, GAUCHER'S disease, MUCOPOLYSACCHARIDOSIS, SYSTEMATIC reviews, MEDLINE, GLYCOGEN storage disease, LUNG diseases, ONLINE information services, LYSOSOMAL storage diseases

المؤلفون: Spiewak, Justyna¹ (AUTHOR) j.spiewak@ucl.ac.uk, Doykov, Ivan¹ (AUTHOR) i.doykov@ucl.ac.uk, Papandreou, Apostolos^1,2,3 (AUTHOR) apostolos.papandreou@alumni.ucl.ac.uk, Hällqvist, Jenny¹ (AUTHOR) j.hallqvist@ucl.ac.uk, Mills, Philippa¹ (AUTHOR) p.mills@ucl.ac.uk, Clayton, Peter T.¹ (AUTHOR) peter.clayton@ucl.ac.uk, Gissen, Paul^1,4 (AUTHOR) p.gissen@ucl.ac.uk, Mills, Kevin¹ (AUTHOR) kevin.mills@ucl.ac.uk, Heywood, Wendy E.¹ (AUTHOR) kevin.mills@ucl.ac.uk

المصدر: International Journal of Molecular Sciences. Jun2023, Vol. 24 Issue 12, p10177. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *LIQUID chromatography-mass spectrometry, *ANGIOKERATOMA corporis diffusum, *NIEMANN-Pick diseases, *GAUCHER'S disease

المؤلفون: Yu, Meigen¹ (AUTHOR), Ye, Hui² (AUTHOR), De-Paula, Ruth B.³ (AUTHOR), Mangleburg, Carl Grant^4,5 (AUTHOR), Wu, Timothy^4,5 (AUTHOR), Lee, Tom V.² (AUTHOR), Li, Yarong² (AUTHOR), Duong, Duc⁶ (AUTHOR), Phillips, Bridget^7,8 (AUTHOR), Cruchaga, Carlos^7,8 (AUTHOR), Allen, Genevera I.^9,10 (AUTHOR), Seyfried, Nicholas T.⁶ (AUTHOR), Al-Ramahi, Ismael^4,10,11 (AUTHOR), Botas, Juan^3,4,10,11 (AUTHOR), Shulman, Joshua M.^1,2,4,10,11 (AUTHOR) Joshua.Shulman@bcm.edu

المصدر: PLoS Genetics. 5/18/2023, Vol. 19 Issue 5, p1-25. 25p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *RECESSIVE genes, *GAUCHER'S disease, *ALPHA-synuclein, *GENETIC variation, *HUMAN genetics, *DEEP brain stimulation

المؤلفون: Higashi, Kanako, Sonoda, Yuri, Kaku, Noriyuki, Fujii, Fumihiko, Yamashita, Fumiya, Lee, Sooyoung, Tocan, Vlad, Ebihara, Go, Matsuoka, Wakato, Tetsuhara, Kenichi, Sonoda, Motoshi, Chong, Pin Fee, Mushimoto, Yuichi, Kojima‐Ishii, Kanako, Ishimura, Masataka, Koga, Yuhki, Fukuta, Atsuhisa, Tsuchihashi, Nana Akagi, Kikuchi, Yoshikazu, Karashima, Takahito

المصدر: Molecular Genetics & Genomic Medicine; Apr2024, Vol. 12 Issue 4, p1-7, 7p

مصطلحات موضوعية: GAUCHER'S disease, LITERATURE reviews, ENZYME replacement therapy, LYSOSOMAL storage diseases, ENZYME deficiency

المؤلفون: Giacomarra, Miriam, Colomba, Paolo, Francofonte, Daniele, Zora, Marcomaria, Caocci, Giovanni, Diomede, Daniela, Giuffrida, Gaetano, Fiori, Laura, Montanari, Chiara, Sapuppo, Annamaria, Scortechini, Anna Rita, Vitturi, Nicola, Duro, Giovanni, Zizzo, Carmela

المصدر: Journal of Clinical Medicine; Mar2024, Vol. 13 Issue 5, p1487, 12p

مصطلحات موضوعية: NIEMANN-Pick diseases, GAUCHER'S disease, LYSOSOMAL storage diseases, GLYCOGEN storage disease type II, DIFFERENTIAL diagnosis, ENZYME replacement therapy

المؤلفون: Vernet Machado Bressan Wilke, Matheus, Iop, Gabrielle Dineck, Faqueti, Larissa, Lemos da Silva, Layzon Antonio, Kubaski, Francyne, Poswar, Fabiano O., Michelin-Tirelli, Kristiane, Randon, Dévora, Borelli, Wyllians Vendramini, Giugliani, Roberto, Schwartz, Ida Vanessa D.

المصدر: International Journal of Molecular Sciences; Mar2024, Vol. 25 Issue 5, p2870, 14p

مصطلحات موضوعية: CEREBROSPINAL fluid examination, GAUCHER'S disease, LYSOSOMAL storage diseases, CEREBROSPINAL fluid, BIOMARKERS, B cells, ETHYL acetate

الشركة/الكيان: MICROSOFT Corp.