المؤلفون: Markussen, Kia H.¹, Corti, Manuela², Byrne, Barry J.², Vander Kooi, Craig W.^3,4,5, Sun, Ramon C.^3,4,5, Gentry, Matthew S.^3,4,5 matthew.gentry@ufl.edu

المصدر: Journal of Neurochemistry. May2024, Vol. 168 Issue 5, p728-743. 16p.

مصطلحات موضوعية: *GLYCOGEN, *GLYCOGEN storage disease, *GLYCOGEN storage disease type II, *TECHNOLOGICAL innovations, *GLUCOSE transporters

المؤلفون: Babaee, Marzieh^1,2, Nilipour, Yalda³, Alijanpour, Sahar⁴, Ghasemi, Aida⁵, Taghdiri, Mohammad Mehdi^6,7, Sarraf, Payam^8,9, Miryounesi, Mohammad⁴, Ramezani, Mahtab⁵ drramezani23@gmail.com

المصدر: Neuropathology. Jun2024, p1. 7p. 4 Illustrations, 1 Chart.

مصطلحات موضوعية: *GLYCOGEN storage disease, *MUSCLE diseases, *NEMALINE myopathy, *IRANIANS, *MUSCLE weakness, *GENETIC counseling, *PHENOTYPIC plasticity

المؤلفون: Moon, Stephanie S.¹ (AUTHOR) moon0stephanie@gmail.com, Ovens, Christopher A.² (AUTHOR), Reid, Gerard² (AUTHOR), Fraser, Clare L.² (AUTHOR)

المصدر: Neuro-Ophthalmology. Jun2024, Vol. 48 Issue 3, p198-203. 6p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *GLYCOGEN storage disease type II, *OPTICAL coherence tomography, *CHRONIC kidney failure, *LYSOSOMAL storage diseases, *HEART failure, *TREATMENT delay (Medicine)

المؤلفون: Sato, Vitor Neves^1,2,3 (AUTHOR) vitor.neves.sato@gmail.com, Moriwaki, Tatiane Lumi^1,2 (AUTHOR), do Amaral e Castro, Adham^1,4 (AUTHOR), da Rocha Correa Fernandes, Artur^1,5 (AUTHOR), Guimaraes, Julio Brandao^1,6 (AUTHOR)

المصدر: Skeletal Radiology. Jun2024, Vol. 53 Issue 6, p1211-1217. 7p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *CARPAL tunnel syndrome, *LYSOSOMAL storage diseases, *WRIST joint, *MAGNETIC resonance imaging, *MUCOPOLYSACCHARIDOSIS, *JOINT stiffness

المؤلفون: Wang, Ao^1,2 (AUTHOR), Wu, Jiamei¹ (AUTHOR), Yuan, Xiaohui¹ (AUTHOR), Liu, Jianping¹ (AUTHOR), Lu, Changli¹ (AUTHOR) 13408587426@163.com

المصدر: BMC Medical Genomics. 5/6/2024, Vol. 17 Issue 1, p1-8. 8p.

مصطلحات موضوعية: *GLYCOGEN storage disease, *GROWTH disorders, *GENETIC disorders, *SYMPTOMS, *ADENOMA, *HEPATIC veno-occlusive disease

المؤلفون: Do, Hung¹ (AUTHOR), Meena, Naresh K.¹ (AUTHOR), Raben, Nina¹ (AUTHOR) hung.do@m6ptherapeutics.com

المصدر: Biomolecules (2218-273X). May2024, Vol. 14 Issue 5, p573. 17p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *AUTOPHAGY, *ENZYME deficiency, *MYOCARDIUM, *GLYCOGENOLYSIS

المؤلفون: Langbour, C.^1,2 camille.langbour@etu.univ-tours.fr, Nicolas, S.¹, Bigot, A.¹, Chu Miow Lin, D.², Baydoun, S.², Blasco, H.^3,4, Froissart, R.⁵, Ferreira-Maldent, N.¹, Audemard-Verger, A.^1,4, Maillot, F.^1,4

المصدر: Revue de Médecine Interne. May2024, Vol. 45 Issue 5, p312-315. 4p.

مصطلحات موضوعية: *GLYCOGEN storage disease, *IMMUNOLOGY, *MAGNETIC resonance imaging, *SYMPTOMS, *BIOPSY

المؤلفون: O'Neal, Matthew¹ (AUTHOR), Noher de Halac, Ines² (AUTHOR), Aylward, Shawn C.^1,3 (AUTHOR), Yildiz, Vedat^4,5 (AUTHOR), Zapanta, Bianca⁶ (AUTHOR), Abreu, Nicolas⁷ (AUTHOR), de los Reyes, Emily^1,3 (AUTHOR) Emily.delosReyes@nationwidechildrens.org

المصدر: Pediatric Neurology. May2024, Vol. 154, p51-57. 7p.

مصطلحات موضوعية: *NEURONAL ceroid-lipofuscinosis, *GLYCOGEN storage disease type II, *LYSOSOMAL storage diseases, *EARLY death, *DISEASE progression, *JUVENILE diseases

المؤلفون: Lika, Aglina^1,2,3 (AUTHOR), Andrinopoulou, Eleni‐Rosalina^2,3 (AUTHOR), van der Beek, Nadine A. M. E.⁴ (AUTHOR), Rizopoulos, Dimitris^2,3 (AUTHOR), van der Ploeg, Ans T.¹ (AUTHOR), Kruijshaar, Michelle E.¹ (AUTHOR) m.kruijshaar@erasmusmc.nl

المصدر: European Journal of Neurology. May2024, Vol. 31 Issue 5, p1-13. 13p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *INTERSTITIAL lung diseases, *ENZYME replacement therapy, *VITAL capacity (Respiration), *ADULTS, *PHYSICAL mobility

المؤلفون: Schoser, Benedikt¹ (AUTHOR) benedikt.schoser@med.uni-muenchen.de, Kishnani, Priya S.² (AUTHOR), Bratkovic, Drago³ (AUTHOR), Byrne, Barry J.⁴ (AUTHOR), Claeys, Kristl G.^5,6 (AUTHOR), Díaz-Manera, Jordi⁷ (AUTHOR), Laforêt, Pascal⁸ (AUTHOR), Roberts, Mark⁹ (AUTHOR), Toscano, Antonio¹⁰ (AUTHOR), van der Ploeg, Ans T.¹¹ (AUTHOR), Castelli, Jeff¹² (AUTHOR), Goldman, Mitchell¹² (AUTHOR), Holdbrook, Fred¹² (AUTHOR), Sitaraman Das, Sheela¹² (AUTHOR), Wasfi, Yasmine¹² (AUTHOR), Mozaffar, Tahseen¹³ (AUTHOR), Sebok, Agnes (AUTHOR), Pestronk, Alan (AUTHOR), Dominovic-Kovacevic, Aleksandra (AUTHOR), Khan, Aneal (AUTHOR)

المصدر: Journal of Neurology. May2024, Vol. 271 Issue 5, p2810-2823. 14p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *ENZYME replacement therapy