Glycogen storage disease (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Glycogen storage disease" in English language version.

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83nih.gov

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pediatrics.aappublications.org

Bodamer, Olaf A.; Scott, C. Ronald; Giugliani, Roberto; Pompe Disease Newborn Screening Working Group (2017). "Newborn Screening for Pompe Disease". Pediatrics. 140 (Suppl 1): S4–S13. doi:10.1542/peds.2016-0280C. PMID 29162673. S2CID 43782810.

agsdus.org

"Glycogen Storage Disease Type I". Association for Glycogen Storage Diseases (AGSD). October 2006. Archived from the original on 11 April 2021.

clevelandclinic.org

my.clevelandclinic.org

"Glycogen Storage Diseases". Cleveland Clinic. Retrieved 2023-12-29.

doi.org

Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; Vazquez Cantu, D.L.; Góngora-Cortéz, J.J.; Gutiérrez-Castillo, A. (2019). "Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population". Journal of Neonatal-Perinatal Medicine. 12 (2): 203–207. doi:10.3233/NPM-1831. PMID 30741698. S2CID 73452760.
Stegelmeier BL, Molyneux RJ, Elbein AD, James LF (May 1995). "The lesions of locoweed (Astragalus mollissimus), swainsonine, and castanospermine in rats". Veterinary Pathology. 32 (3): 289–98. doi:10.1177/030098589503200311. PMID 7604496. S2CID 45016726.
Stojkovic, Tanya; Vissing, John; Petit, François; Piraud, Monique; Orngreen, Mette C.; Andersen, Grete; Claeys, Kristl G.; Wary, Claire; Hogrel, Jean-Yves; Laforêt, Pascal (2009-07-23). "Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency". New England Journal of Medicine. 361 (4): 425–427. doi:10.1056/NEJMc0901158. ISSN 0028-4793. PMID 19625727.
Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; .Vazquez Cantu, D.L.; Góngora-Cortéz, J.J.; Gutiérrez-Castillo, A. (4 February 2019). "Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population". Journal of Neonatal-Perinatal Medicine. 12 (2): 203–207. doi:10.3233/NPM-1831. PMID 30741698. S2CID 73452760.
Bodamer, Olaf A.; Scott, C. Ronald; Giugliani, Roberto; Pompe Disease Newborn Screening Working Group (2017). "Newborn Screening for Pompe Disease". Pediatrics. 140 (Suppl 1): S4–S13. doi:10.1542/peds.2016-0280C. PMID 29162673. S2CID 43782810.
Menon, M. Suraj; Roopch, P. Sreedharan; Kabeer, K. Abdulkhayar; Shaji, C. Velayudhan (July 2016). "Calf Muscle Hypertrophy in Late Onset Pompe's Disease". Archives of Medicine and Health Sciences. 4 (2): 251. doi:10.4103/2321-4848.196188. ISSN 2321-4848. S2CID 58424073.
Kishnani, Priya S.; Austin, Stephanie L.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Case, Laura E.; Chung, Wendy K.; Desai, Dev M.; El-Gharbawy, Areeg; Haller, Ronald; Smit, G. Peter A.; Smith, Alastair D.; Hobson-Webb, Lisa D.; Wechsler, Stephanie Burns; Weinstein, David A. (July 2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1530-0366. PMID 20631546. S2CID 4609175.
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Rodríguez-Gómez, I.; Santalla, A.; Díez-Bermejo, J.; Munguía-Izquierdo, D.; Alegre, L. M.; Nogales-Gadea, G.; Arenas, J.; Martín, M. A.; Lucía, A.; Ara, I. (November 2018). "Non-osteogenic muscle hypertrophy in children with McArdle disease". Journal of Inherited Metabolic Disease. 41 (6): 1037–1042. doi:10.1007/s10545-018-0170-7. hdl:10578/19657. ISSN 1573-2665. PMID 29594644. S2CID 4394513.
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; Ferreira, Carlos; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Grunewald, Stephanie (January 2021). "International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management". Journal of Inherited Metabolic Disease. 44 (1): 148–163. doi:10.1002/jimd.12286. ISSN 0141-8955. PMC 7855268. PMID 32681750.
Preisler, Nicolai; Cohen, Jonathan; Vissing, Christoffer Rasmus; Madsen, Karen Lindhardt; Heinicke, Katja; Sharp, Lydia Jane; Phillips, Lauren; Romain, Nadine; Park, Sun Young; Newby, Marta; Wyrick, Phil; Mancias, Pedro; Galbo, Henrik; Vissing, John; Haller, Ronald Gerald (November 2017). "Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency". Molecular Genetics and Metabolism. 122 (3): 117–121. doi:10.1016/j.ymgme.2017.08.007. PMID 28882528.
Moslemi, Ali-Reza; Lindberg, Christopher; Nilsson, Johanna; Tajsharghi, Homa; Andersson, Bert; Oldfors, Anders (April 2010). "Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis". New England Journal of Medicine. 362 (13): 1203–1210. doi:10.1056/NEJMoa0900661. ISSN 0028-4793. PMID 20357282.
Ludwig M, Wolfson S, Rennert O (October 1972). "Glycogen storage disease, type 8". Arch. Dis. Child. 47 (255): 830–833. doi:10.1136/adc.47.255.830. PMC 1648209. PMID 4508182.
Tegtmeyer, Laura C.; Rust, Stephan; van Scherpenzeel, Monique; Ng, Bobby G.; Losfeld, Marie-Estelle; Timal, Sharita; Raymond, Kimiyo; He, Ping; Ichikawa, Mie; Veltman, Joris; Huijben, Karin; Shin, Yoon S.; Sharma, Vandana; Adamowicz, Maciej; Lammens, Martin (2014-02-06). "Multiple Phenotypes in Phosphoglucomutase 1 Deficiency". New England Journal of Medicine. 370 (6): 533–542. doi:10.1056/NEJMoa1206605. ISSN 0028-4793. PMC 4373661. PMID 24499211.
Echaniz-Laguna, A.; Lornage, X.; Edelweiss, E.; Laforêt, P.; Eymard, B.; Vissing, J.; Laporte, J.; Böhm, J. (October 2019). "O.5A new glycogen storage disorder caused by a dominant mutation in the glycogen myophosphorylase gene (PYGM)". Neuromuscular Disorders. 29: S39. doi:10.1016/j.nmd.2019.06.023. S2CID 203582211.
Lucia, Alejandro; Martinuzzi, Andrea; Nogales-Gadea, Gisela; Quinlivan, Ros; Reason, Stacey; International Association for Muscle Glycogen Storage Disease study group (December 2021). "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group". Neuromuscular Disorders. 31 (12): 1296–1310. doi:10.1016/j.nmd.2021.10.006. ISSN 1873-2364. PMID 34848128. S2CID 240123241.
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Preisler, Nicolai; Cohen, Jonathan; Vissing, Christoffer Rasmus; Madsen, Karen Lindhardt; Heinicke, Katja; Sharp, Lydia Jane; Phillips, Lauren; Romain, Nadine; Park, Sun Young; Newby, Marta; Wyrick, Phil; Mancias, Pedro; Galbo, Henrik; Vissing, John; Haller, Ronald Gerald (November 2017). "Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency". Molecular Genetics and Metabolism. 122 (3): 117–121. doi:10.1016/j.ymgme.2017.08.007. PMID 28882528.
Echaniz-Laguna, A.; Lornage, X.; Edelweiss, E.; Laforêt, P.; Eymard, B.; Vissing, J.; Laporte, J.; Böhm, J. (October 2019). "O.5A new glycogen storage disorder caused by a dominant mutation in the glycogen myophosphorylase gene (PYGM)". Neuromuscular Disorders. 29: S39. doi:10.1016/j.nmd.2019.06.023. S2CID 203582211.

handle.net

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Rodríguez-Gómez, I.; Santalla, A.; Díez-Bermejo, J.; Munguía-Izquierdo, D.; Alegre, L. M.; Nogales-Gadea, G.; Arenas, J.; Martín, M. A.; Lucía, A.; Ara, I. (November 2018). "Non-osteogenic muscle hypertrophy in children with McArdle disease". Journal of Inherited Metabolic Disease. 41 (6): 1037–1042. doi:10.1007/s10545-018-0170-7. hdl:10578/19657. ISSN 1573-2665. PMID 29594644. S2CID 4394513.
Gilhus, Nils Erik (2021-03-01). "Physical training and exercise in myasthenia gravis". Neuromuscular Disorders. 31 (3): 169–173. doi:10.1016/j.nmd.2020.12.004. hdl:11250/2767222. ISSN 0960-8966. PMID 33461846. S2CID 229372884.

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Wakelin, Andrew (2017). Living With McArdle Disease (PDF). IamGSD (International Association for Muscle Glycogen Storage Disease).
Wakelin, Andrew (2013). 101Tips for a good life with McArdle Disease (PDF). AGSD-UK. p. 52.

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Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; .Vazquez Cantu, D.L.; Góngora-Cortéz, J.J.; Gutiérrez-Castillo, A. (4 February 2019). "Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population". Journal of Neonatal-Perinatal Medicine. 12 (2): 203–207. doi:10.3233/NPM-1831. PMID 30741698. S2CID 73452760.

lww.com

journals.lww.com

Menon, M. Suraj; Roopch, P. Sreedharan; Kabeer, K. Abdulkhayar; Shaji, C. Velayudhan (July 2016). "Calf Muscle Hypertrophy in Late Onset Pompe's Disease". Archives of Medicine and Health Sciences. 4 (2): 251. doi:10.4103/2321-4848.196188. ISSN 2321-4848. S2CID 58424073.

medlineplus.gov

"Glycogen Storage Disease type 0" (PDF). MedLine Plus.

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"Myopathies associated with thyroid disease". MedLink Neurology. Retrieved 2023-05-24.

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"Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency): Background, Pathophysiology, Epidemiology". 2022-10-10. {{cite journal}}: Cite journal requires |journal= (help)
eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009
Tegay, David H (March 15, 2022). "Genetics of Glycogen-Storage Disease Type III Clinical Presentation: History, Physical, Causes". Medscape Reference. Retrieved October 24, 2023.
Blenda, Anna V.; Chosed, Renee J.; Windle, Mary L.; Descartes, Maria; Curto, Lynne I; Kaye, Edward (4 Aug 2008). "Genetics of Glycogen Storage Disease Type VI (Hers Disease)". eMedicine (Medscape Reference). Archived from the original on 1 January 2022.

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"Definition: glycogen storage disease type VIII from Online Medical Dictionary". Archived from the original on 2009-07-03. Retrieved 2008-09-01.

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"Glycogenoses".