يعرض 1 - 20 نتائج من 15,117 نتيجة بحث عن '"GLYCOGEN storage disease"', وقت الاستعلام: 0.52s تنقيح النتائج
  1. 1
    Academic Journal
    Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.

    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, Cristina5,6 (AUTHOR), Hernández-Lain, Aurelio5,6 (AUTHOR), Paradas, Carmen7,8 (AUTHOR), Rivas, Eloy7,8 (AUTHOR), Papadimas, George9 (AUTHOR), Papadopoulos, Constantinos9 (AUTHOR), Chrysanthou-Piterou, Margarita9 (AUTHOR), Gallardo, Eduard2,6,10 (AUTHOR), Olivé, Montse2,6,10 (AUTHOR), Lilleker, James11,12 (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


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  2. 2
    Academic Journal
    Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.

    المؤلفون: Zhang, Xiaoyan1 (AUTHOR), Su, Zexiong1 (AUTHOR), Wu, Jiaxing1 (AUTHOR), Zeng, Hanshi1 (AUTHOR), Jiang, Xun2 (AUTHOR), Wang, Ying3 (AUTHOR), Shen, Huiqing4 (AUTHOR), Xie, Xiaoli5 (AUTHOR), Xiao, Yuan6 (AUTHOR), Tang, Qing7 (AUTHOR), Luo, Xiaoping8 (AUTHOR), Zhong, Xuemei9 (AUTHOR), Chen, Huan10 (AUTHOR), Lan, Jiaoli1 (AUTHOR), Chen, Yongxin1 (AUTHOR), Zeng, Xiaolu1 (AUTHOR), Zhang, Huiqiong1 (AUTHOR), Li, Zhiling1 (AUTHOR), Zhang, Yuxin1 (AUTHOR), Yang, Min1,11 (AUTHOR) yangmin1008@gdph.org.cn

    المصدر: Orphanet Journal of Rare Diseases. 1/28/2025, Vol. 20 Issue 1, p1-11. 11p.

    مصطلحات موضوعية: *GLYCOGEN storage disease, *INBORN errors of metabolism, *INFLAMMATORY bowel diseases, *CORNSTARCH, *MEDICAL sciences

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  3. 3
    Academic Journal
    Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

    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

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  4. 4
    Academic Journal
    A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).

    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

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  5. 5
    Academic Journal
    A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles.

    المؤلفون: Groen, Joost1 (AUTHOR) j.groen@umcg.nl, de Haan, Bas M.2 (AUTHOR), Overduin, Ruben J.3 (AUTHOR), Haijer-Schreuder, Andrea B.3 (AUTHOR), Derks, Terry GJ3 (AUTHOR), Heiner-Fokkema, M. Rebecca1 (AUTHOR)

    المصدر: Orphanet Journal of Rare Diseases. 1/9/2025, Vol. 20 Issue 1, p1-10. 10p.

    مصطلحات موضوعية: *MACHINE learning, *GLYCOGEN storage disease, *FATTY acid oxidation, *FEATURE selection, *ARTIFICIAL intelligence

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  6. 6
    Academic Journal
    Effectiveness of liver biopsy in diagnosing liver diseases using a five-point diagnostic scale among pediatric population.

    المؤلفون: Alvi, Quratulain Ahmed1 ainee.girl@gmail.com, Parkash, Arit2

    المصدر: Professional Medical Journal. Jan2025, Vol. 32 Issue 1, p112-117. 6p.

    مصطلحات موضوعية: *GLYCOGEN storage disease, *LIVER disease diagnosis, *LIVER biopsy, *JUVENILE diseases, *LIVER function tests

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  7. 7
    Academic Journal
    Late Presentation of McArdle's Disease Mimicking Polymyalgia Rheumatica: A Case Report and Review of the Literature.

    المؤلفون: Elghobashy, Maiar1 (AUTHOR), Pohl, Ute2 (AUTHOR), Bateman, James1,3 (AUTHOR) j.bateman@bham.ac.uk, Saadeh, Constantine (AUTHOR)

    المصدر: Case Reports in Rheumatology. 1/3/2025, Vol. 2025, p1-6. 6p.

    مصطلحات موضوعية: *GLYCOGEN storage disease, *POLYMYALGIA rheumatica, *GENETIC testing, *MYALGIA, *SKELETAL muscle

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  8. 8
    Academic Journal
    In silico analysis of point mutation (c.687dupC; p. Met230Hisfs*6) in PGAM2 gene that causes Glycogen Storage Disease (GSD) Type X.

    المؤلفون: Abid, Ayesha1, Nasir, Eman1, Awan, Hassaan Mehboob1 hassaan.awan@comsats.edu.pk

    المصدر: Kuwait Journal of Science. Jan2025, Vol. 52 Issue 1, p1-7. 7p.

    مصطلحات موضوعية: *GLYCOGEN storage disease, *BINDING site assay, *ENZYME deficiency, *INSERTION mutation, *FRAMESHIFT mutation

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  9. 9
    Academic Journal
    Global birth prevalence of Pompe disease: A systematic review and meta-analysis.

    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


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  10. 10
    Academic Journal
    Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile‐onset Pompe disease.

    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

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  11. 11
    Academic Journal
    Neuroprotection of isoorientin against microglia activation induced by lipopolysaccharide via regulating GSK3β, NF-κb and Nrf2/HO-1 pathways.

    المؤلفون: Tan, Xiaoqin1,2,3 (AUTHOR), Cao, Mindie1 (AUTHOR), Zhao, Yijing1 (AUTHOR), Yi, Lang1 (AUTHOR), Li, Yingui1 (AUTHOR), He, Changhong1 (AUTHOR), Li, Qing X.2 (AUTHOR) qingl@hawaii.edu, Dong, Yan1 (AUTHOR) dondy001@gzucm.edu.cn

    المصدر: Immunopharmacology & Immunotoxicology. Dec2024, Vol. 46 Issue 6, p741-750. 10p.

    مصطلحات موضوعية: *GLYCOGEN synthase kinase, *GLYCOGEN storage disease, *ALZHEIMER'S disease, *CENTRAL nervous system, *LITHIUM chloride


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  12. 12
    Academic Journal
    Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale.

    المؤلفون: van Kooten, Harmke A.1 (AUTHOR), Horton, Mike C.2 (AUTHOR), Wenninger, Stephan3 (AUTHOR), Babačić, Haris3,4 (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)

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  13. 13
    Academic Journal
    The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

    المؤلفون: Parenti, Giancarlo1,2,3,4 (AUTHOR) parenti@unina.it, Fecarotta, Simona1,3,4 (AUTHOR), Alagia, Marianna1,3,4 (AUTHOR), Attaianese, Federica1,3 (AUTHOR), Verde, Alessandra1,3,4 (AUTHOR), Tarallo, Antonietta1,2,3 (AUTHOR), Gragnaniello, Vincenza1,3 (AUTHOR), Ziagaki, Athanasia1,5 (AUTHOR), Guimaraes, Maria Jose'1,6 (AUTHOR), Aguiar, Patricio1,7 (AUTHOR), Hahn, Andreas1,8 (AUTHOR), Azevedo, Olga1,9,10,11 (AUTHOR), Donati, Maria Alice1,12 (AUTHOR), Kiec-Wilk, Beata1,13,14 (AUTHOR), Scarpa, Maurizio1,15 (AUTHOR), van der Beek, Nadine A. M. E.1,16 (AUTHOR), Del Toro Riera, Mireja1,17 (AUTHOR), Germain, Dominique P.1,18 (AUTHOR), Huidekoper, Hidde1,19 (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

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  14. 14
    Academic Journal
    Cardiac comorbidities in McArdle disease: case report and systematic review.

    المؤلفون: Hoxhaj, Domeniko1 (AUTHOR), Vadi, Gabriele1 (AUTHOR) vadi.gabriele@gmail.com, Bianchi, Lorenzo2 (AUTHOR), Fontanelli, Lorenzo1 (AUTHOR), Torri, Francesca1 (AUTHOR), Siciliano, Gabriele1 (AUTHOR), Ricci, Giulia1 (AUTHOR)

    المصدر: Neurological Sciences. Oct2024, Vol. 45 Issue 10, p4757-4765. 9p.

    مصطلحات موضوعية: *GLYCOGEN storage disease, *CORONARY artery disease, *HYPERTROPHIC cardiomyopathy, *DILATED cardiomyopathy, *GLYCOGEN storage disease type II, *AORTIC stenosis


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  15. 15
    Report
    Triheptanoin in Mc Ardle

    المؤلفون: Rigshospitalet, Denmark

    المصدر: The Effect of Triheptanoin in Adults with Mc Ardle Disease (Glycogen Storage Disease Type V)

    View record in ClinicalTrials.gov

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  16. 16
    Report
    Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)

    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

    View record in ClinicalTrials.gov

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  17. 17
    Report
    Rare Glycogen Storage Diseases Natural History Study

    المصدر: Rare Glycogen Storage Diseases Natural History Study

    View record in ClinicalTrials.gov

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  18. 18
    Report
    A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients with Glycogen Storage Disease Type Ia (GSDIa)

    المصدر: A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients with Glycogen Storage Disease Type Ia

    View record in ClinicalTrials.gov

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  19. 19
    Report
    Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program

    المصدر: GSDIa Disease Monitoring Program

    View record in ClinicalTrials.gov

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  20. 20
    Report
    Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa (Baby-COMET)

    المصدر: An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment naïve Pediatric Participants With Infantile-Onset Pompe Disease (IOPD)

    View record in ClinicalTrials.gov

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