المؤلفون: Moschetti, Marta¹ (AUTHOR) marta.moschetti@irib.cnr.it, Venezia, Marika¹ (AUTHOR) miriam.giacomarra@irib.cnr.it, Giacomarra, Miriam¹ (AUTHOR) emanuelamaria.marsana@irib.cnr.it, Marsana, Emanuela Maria¹ (AUTHOR) carmela.zizzo@irib.cnr.it, Zizzo, Carmela¹ (AUTHOR) annalisa.derrico@irib.cnr.it, Duro, Giulia² (AUTHOR) giulia.duro@libero.it, D'Errico, Annalisa¹ (AUTHOR) paolo.colomba@irib.cnr.it, Colomba, Paolo¹ (AUTHOR) giovanni.duro@irib.cnr.it, Duro, Giovanni¹ (AUTHOR)

المصدر: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 2, p757. 15p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *ENZYME deficiency, *ENZYME replacement therapy, *MUSCLE weakness, *ARTIFICIAL intelligence

المؤلفون: Laney, Dawn A.¹ (AUTHOR) dawn.laney@emory.edu, Banks, Kayla A.² (AUTHOR), Botha, Eleanor G.¹ (AUTHOR), Keever, Maria³ (AUTHOR), Long, Valynne¹ (AUTHOR), Foley, Allison L.¹ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 1/14/2025, p1-8. 8p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *LIMB-girdle muscular dystrophy, *ACADEMIC medical centers, *GENETIC counseling, *DELAYED diagnosis, *MUSCLE weakness

المؤلفون: Kong, Weijing¹ (AUTHOR) kwj86213@126.com, Lu, Cheng² (AUTHOR) lucheng522@aliyun.com, Wang, Lichao¹ (AUTHOR) wlcccb@163.com

المصدر: Neuroscience. Dec2024, Vol. 563, p167-174. 8p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *DISEASE prevalence, *DATA extraction, *PUBLICATION bias, *DATABASE searching

المؤلفون: Rachedi, Fatiha¹ (AUTHOR), Jreich, Rana² (AUTHOR), Sparks, Susan³ (AUTHOR), Zaher, Atef³ (AUTHOR), an Haack, Kristina² (AUTHOR), Granados, Alicia³ (AUTHOR), Meng, Zhaoling³ (AUTHOR) zhaoling.meng@sanofi.com

المصدر: CPT: Pharmacometrics & Systems Pharmacology. Dec2024, p1. 13p. 4 Illustrations.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *PATIENT experience, *TREATMENT effectiveness, *PATIENTS' attitudes, *RARE diseases

المؤلفون: van Kooten, Harmke A.¹ (AUTHOR), Horton, Mike C.² (AUTHOR), Wenninger, Stephan³ (AUTHOR), Babačić, Haris^3,4 (AUTHOR), Schoser, Benedikt³ (AUTHOR), Lefeuvre, Claire⁵ (AUTHOR), Taouagh, Najib⁵ (AUTHOR), Laforêt, Pascal⁵ (AUTHOR), Segovia, Sonia⁶ (AUTHOR), Díaz‐Manera, Jordi⁶ (AUTHOR), Claeys, Kristl G.^7,8 (AUTHOR), Mongini, Tiziana⁹ (AUTHOR), Musumeci, Olimpia¹⁰ (AUTHOR), Toscano, Antonio¹⁰ (AUTHOR), Hundsberger, Thomas¹¹ (AUTHOR), Brusse, Esther¹ (AUTHOR), van Doorn, Pieter A.¹ (AUTHOR), van der Ploeg, Ans T.¹² (AUTHOR), van der Beek, Nadine A. M. E.¹ (AUTHOR) n.beek@erasmusmc.nl, van Kooten, H. A (AUTHOR)

المصدر: European Journal of Neurology. Dec2024, Vol. 31 Issue 12, p1-11. 11p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *EXPLORATORY factor analysis, *RASCH models, *PSYCHOMETRICS, *PRACTICE (Sports)

المؤلفون: Monceau, Alexandra¹ (AUTHOR), Nath, Rasya Gokul¹ (AUTHOR), Suárez-Calvet, Xavier² (AUTHOR), Musumeci, Olimpia³ (AUTHOR), Toscano, Antonio³ (AUTHOR), Kierdaszuk, Biruta⁴ (AUTHOR), Kostera-Pruszczyk, Anna⁴ (AUTHOR), Domínguez-González, Cristina^5,6 (AUTHOR), Hernández-Lain, Aurelio^5,6 (AUTHOR), Paradas, Carmen^7,8 (AUTHOR), Rivas, Eloy^7,8 (AUTHOR), Papadimas, George⁹ (AUTHOR), Papadopoulos, Constantinos⁹ (AUTHOR), Chrysanthou-Piterou, Margarita⁹ (AUTHOR), Gallardo, Eduard^2,6,10 (AUTHOR), Olivé, Montse^2,6,10 (AUTHOR), Lilleker, James^11,12 (AUTHOR), Roberts, Mark E¹² (AUTHOR), Marchese, Domenica¹³ (AUTHOR), Lunazzi, Giulia¹³ (AUTHOR)

المصدر: Brain: A Journal of Neurology. Dec2024, Vol. 147 Issue 12, p4213-4226. 14p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *GLYCOGEN storage disease, *AMINO acid metabolism, *CELL nuclei, *ENZYME replacement therapy

المؤلفون: Zhang, Jingfei¹ (AUTHOR), Lin, Xinyu^1,2 (AUTHOR), Yin, Lan¹ (AUTHOR), Song, Yue^1,2 (AUTHOR), Chen, Xinglu¹ (AUTHOR), Zhu, Yingchuan¹ (AUTHOR), Jiang, Wenhao¹ (AUTHOR), Lu, Yilu¹ (AUTHOR), Ma, Yongxin¹ (AUTHOR) mayongxin@gmail.com

المصدر: Scientific Reports. 11/11/2024, Vol. 14 Issue 1, p1-10. 10p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *JAK-STAT pathway, *REGULATORY T cells, *IMMUNOLOGIC memory, *LYSOSOMAL storage diseases, *T cells

المؤلفون: Mori-Yoshimura, Madoka¹ (AUTHOR) yoshimur@ncnp.go.jp, Takizawa, Hotake¹ (AUTHOR), Unuma, Atsushi¹ (AUTHOR), Oya, Yasushi¹ (AUTHOR), Yorimoto, Keisuke² (AUTHOR) yoooori@ncnp.go.jp, Katsuta, Wakana² (AUTHOR), Miyagi, Kenji³ (AUTHOR), Sato, Noriko³ (AUTHOR), Hara, Takatoshi² (AUTHOR), Takahashi, Yuji¹ (AUTHOR)

المصدر: Brain & Development. Nov2024, Vol. 46 Issue 10, p320-325. 6p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *ENZYME replacement therapy, *PULMONARY function tests, *VITAL capacity (Respiration), *SUDDEN death

المؤلفون: Parenti, Giancarlo^1,2,3,4 (AUTHOR) parenti@unina.it, Fecarotta, Simona^1,3,4 (AUTHOR), Alagia, Marianna^1,3,4 (AUTHOR), Attaianese, Federica^1,3 (AUTHOR), Verde, Alessandra^1,3,4 (AUTHOR), Tarallo, Antonietta^1,2,3 (AUTHOR), Gragnaniello, Vincenza^1,3 (AUTHOR), Ziagaki, Athanasia^1,5 (AUTHOR), Guimaraes, Maria Jose'^1,6 (AUTHOR), Aguiar, Patricio^1,7 (AUTHOR), Hahn, Andreas^1,8 (AUTHOR), Azevedo, Olga^1,9,10,11 (AUTHOR), Donati, Maria Alice^1,12 (AUTHOR), Kiec-Wilk, Beata^1,13,14 (AUTHOR), Scarpa, Maurizio^1,15 (AUTHOR), van der Beek, Nadine A. M. E.^1,16 (AUTHOR), Del Toro Riera, Mireja^1,17 (AUTHOR), Germain, Dominique P.^1,18 (AUTHOR), Huidekoper, Hidde^1,19 (AUTHOR), van den Hout, Johanna M. P.^1,19 (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 11/1/2024, Vol. 19 Issue 1, p1-23. 23p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *GLYCOGEN storage disease, *LYSOSOMAL storage diseases, *MEDICAL personnel, *METABOLIC disorders

المؤلفون: Colella, Pasqualina¹ (AUTHOR) pcolella@stanford.edu

المصدر: Molecular Diagnosis & Therapy. Nov2024, Vol. 28 Issue 6, p703-719. 17p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *ENZYME replacement therapy, *ENZYME deficiency, *MUSCLE weakness, *NEUROMUSCULAR diseases

المؤلفون: Gaspar, Rafael Calais¹ (AUTHOR), Sakuma, Ikki¹ (AUTHOR), Nasiri, Ali¹ (AUTHOR), Hubbard, Brandon T.² (AUTHOR), LaMoia, Traci E.² (AUTHOR), Leitner, Brooks P.² (AUTHOR), Tep, Samnang³ (AUTHOR), Xi, Yannan³ (AUTHOR), Green, Eric M.³ (AUTHOR), Ullman, Julie C.³ (AUTHOR), Petersen, Kitt Falk¹ (AUTHOR), Shulman, Gerald I.^1,2,4 (AUTHOR) gerald.shulman@yale.edu

المصدر: American Journal of Physiology: Endocrinology & Metabolism. Oct2024, Vol. 327 Issue 4, pE524-E532. 9p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *GLUCOSE metabolism disorders, *ENZYME deficiency, *INSULIN sensitivity, *SMALL molecules

المؤلفون: Zhang, Huanyu^1,2 (AUTHOR), Chen, Shanquan³ (AUTHOR), Xu, Richard Huan⁴ (AUTHOR), Yu, Siyue⁵ (AUTHOR), Yu, Jiazhou⁵ (AUTHOR), Dong, Dong^1,5 (AUTHOR) dongdong@cuhk.edu.hk

المصدر: PLoS ONE. 9/17/2024, Vol. 19 Issue 9, p1-14. 14p.

مصطلحات موضوعية: *ENZYME replacement therapy, *GLYCOGEN storage disease type II, *PATIENTS' attitudes, *PATIENT experience, *QUALITY of life

المؤلفون: Rustamov, Jaloliddin¹ (AUTHOR) 700043175@uaeu.ac.ae, Rustamov, Zahiriddin^2,3 (AUTHOR), Mohamad, Mohd Saberi^4,5 (AUTHOR), Zaki, Nazar^2,3 (AUTHOR), Al Tenaiji, Amal⁶ (AUTHOR), Al Harbi, Mariam⁷ (AUTHOR), Al Jasmi, Fatma^1,3,8 (AUTHOR) aljasmif@uaeu.ac.ae

المصدر: Scientific Reports. 9/14/2024, Vol. 14 Issue 1, p1-14. 14p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *ENZYME deficiency, *ELECTRONIC health records, *STREPTOCOCCUS agalactiae, *CONGENITAL heart disease

المؤلفون: Moschetti, Marta¹ (AUTHOR), Lo Curto, Alessia¹ (AUTHOR), Giacomarra, Miriam¹ (AUTHOR) marta.moschetti@irib.cnr.it, Francofonte, Daniele¹ (AUTHOR), Zizzo, Carmela¹ (AUTHOR), Messina, Elisa¹ (AUTHOR), Duro, Giovanni¹ (AUTHOR), Colomba, Paolo¹ (AUTHOR) paolo.colomba@irib.cnr.it

المصدر: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9139. 14p.

مصطلحات موضوعية: *GLYCOGEN storage disease type II, *GENETIC profile, *SYMPTOMS, *GENETIC variation, *DELAYED diagnosis

المصدر: A French Multicenter Open Label Phase 4 Extension Study of Long-term Safety and Efficacy in Patients With Pompe Disease Who Previously Participated in Avalglucosidase Alfa Development Studies in France

المؤلفون: Duke University

المساهمون: Tippi Mackenzie, Professor of Surgery

المصدر: PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Nguyen QH, Witt RG, Wang B, Eikani C, Shea J, Smith LK, Boyle G, Cadaoas J, Sper R, MacKenzie JD, Villeda S, MacKenzie TC. Tolerance induction and microglial engraftment after fetal therapy without conditioning in mice with Mucopolysaccharidosis type VII. Sci Transl Med. 2020 Feb 26;12(532):eaay8980. doi: 10.1126/scitranslmed.aay8980.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Author Correction: Lysosomal storage diseases. Nat Rev Dis Primers. 2018 Oct 18;4(1):36. doi: 10.1038/s41572-018-0037-0.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20;281(3):249-54. doi: 10.1001/jama.281.3.249.
Azevedo AC, Schwartz IV, Kalakun L, Brustolin S, Burin MG, Beheregaray AP, Leistner S, Giugliani C, Rosa M, Barrios P, Marinho D, Esteves P, Valadares E, Boy R, Horovitz D, Mabe P, da Silva LC, de Souza IC, Ribeiro M, Martins AM, Palhares D, Kim CA, Giugliani R. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet. 2004 Sep;66(3):208-13. doi: 10.1111/j.1399-0004.2004.00277.x.
Rosenbloom BE, Weinreb NJ. Gaucher disease: a comprehensive review. Crit Rev Oncog. 2013;18(3):163-75. doi: 10.1615/critrevoncog.2013006060.
Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, Huang AC, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL. Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics. 2009 Dec;124(6):e1116-25. doi: 10.1542/peds.2008-3667.
Blitz MJ, Rochelson B, Sood M, Bialer MG, Vohra N. Prenatal sonographic findings in a case of Wolman's disease. J Clin Ultrasound. 2018 Jan;46(1):66-68. doi: 10.1002/jcu.22481. Epub 2017 Apr 4.
Tsai AC, Hung YW, Harding C, Koeller DM, Wang J, Wong LC. Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease. Am J Med Genet A. 2017 Sep;173(9):2500-2504. doi: 10.1002/ajmg.a.38333. Epub 2017 Jun 28.
Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, Chen YT, Rosenberg AS, Kishnani PS. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011 Aug;13(8):729-36. doi: 10.1097/GIM.0b013e3182174703.

المصدر: Registry of Patients Diagnosed With Lysosomal Storage Diseases

المصدر: A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients With Late-Onset Pompe Disease

المصدر: A Phase 3 Open-label Extension Study to Assess the Long-term Safety and Efficacy of Intravenous ATB200 Co-administered With Oral AT2221 in Adult Subjects With Late Onset Pompe Disease

المصدر: A Global Prospective Observational Registry of Patients With Pompe Disease