Relevant bibliographies by topics / Glycogen storage disease type II

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Academic literature on the topic 'Glycogen storage disease type II'

Author: Grafiati
Published: 4 June 2021
Last updated: 26 July 2025

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Journal articles on the topic "Glycogen storage disease type II"

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Li, Hui-Ping, Wan-Mu Xie, Xu Huang, et al. "Pulmonary Hypertension in Glycogen Storage Disease Type II." Chinese Medical Journal 131, no. 11 (2018): 1375–76. http://dx.doi.org/10.4103/0366-6999.232792.

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Sahin, Mustafa, and Adre J. du Plessis. "Hydrocephalus associated with glycogen storage disease type II (pompe’s disease)." Pediatric Neurology 21, no. 3 (1999): 674–76. http://dx.doi.org/10.1016/s0887-8994(99)00064-8.

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Schoser, Benedikt, Victoria Hill, and Nina Raben. "Therapeutic approaches in glycogen storage disease type II/pompe disease." Neurotherapeutics 5, no. 4 (2008): 569–78. http://dx.doi.org/10.1016/j.nurt.2008.08.009.

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Walvoort, H. C. "Glycogen storage disease type II in the Lapland dog." Veterinary Quarterly 7, no. 3 (1985): 187–90. http://dx.doi.org/10.1080/01652176.1985.9693981.

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Gaze, David C., Graham J. Lawson, Adam Harris, and Paul O. Collinson. "Evidence of cardiomyocyte necrosis in glycogen storage disease type II." Annals of Clinical Biochemistry 44, no. 1 (2007): 86–88. http://dx.doi.org/10.1258/000456307779596048.

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Angelini, Corrado. "Nutritional Recommendations for Patients with Glycogen Storage Disease Type II." Clinical Therapeutics 30 (January 2008): S21. http://dx.doi.org/10.1016/s0149-2918(08)80029-x.

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Shin, Y. S., M. Rieth, J. Tausenfreund, and W. Endres. "First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III." Journal of Inherited Metabolic Disease 12, S2 (1989): 289–91. http://dx.doi.org/10.1007/bf03335401.

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Kishnani, Priya S., Baodong Sun, and Dwight D. Koeberl. "Gene therapy for glycogen storage diseases." Human Molecular Genetics 28, R1 (2019): R31—R41. http://dx.doi.org/10.1093/hmg/ddz133.

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AbstractThe focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that affect liver or muscle or both tissues. For example, glucose-6-phosphatase (G6Pase) deficiency in GSD type Ia (GSD Ia) affects primarily the liver and kidney, while acid α-glucosidase (GAA) deficiency in GSD II causes primarily muscle disease. The lack of specific therapy for the GSDs has driven efforts to develop new therapies for t
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Fu Liong, Hiew, Siti Aishah Abdul Wahab, Yusnita Yakob, Ngu Lock Hock, Wong Kum Thong, and Shanthi Viswanathan. "Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience." Case Reports in Neurological Medicine 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/926510.

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Pompe’s disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acidα-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe’s disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentia
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Chen, Yuan-Tsong, and Andrea Amalfitano. "Towards a molecular therapy for glycogen storage disease type II (Pompe disease)." Molecular Medicine Today 6, no. 6 (2000): 245–51. http://dx.doi.org/10.1016/s1357-4310(00)01694-4.

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Dissertations / Theses on the topic "Glycogen storage disease type II"

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Remiche, Gauthier. "Genotype-phenotype Correlation in Late-onset Glycogen Storage Disease Type II, Early Diagnosis and Prognostic Determinants." Doctoral thesis, Universite Libre de Bruxelles, 2016. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/227822.

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Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal storage disorder caused by acid alpha-1,4-glucosidase (GAA) deficiency. This study aimed to provide an in-depth description of a late-onset GSDII (LO-GSDII) cohort (n=36) and assess potential genotype-phenotype correlation. We performed a clinical record-based study, some patients (n= 19) were also followed prospectively. Phenotypes were highly variable. We focused our clinical assessment onrespiratory failure, as it is the most frequent cause of death in LO-GSDII. In addition to standard spirometric measures, in a su
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Nascimbeni, Anna Chiara. "Glycogenosys type II and Danon Disease: molecular study and muscle pathology." Doctoral thesis, Università degli studi di Padova, 2009. http://hdl.handle.net/11577/3426098.

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The objective of this study was to examine at molecular, biochemical and muscle pathology level two groups of patients affected with Danon disease and GSDII, in order to get new insights that might help in tracing genotype-phenotype correlations and to delineate their pathological mechanisms. Glycogen storage disease type II (GSDII) is an autosomal recessive disorder (OMIM # 232300) caused by the deficiency of the lysosomal enzyme acid ?-glucosidase or acid maltase (EC 3.2.1.20/3), which catalyses the hydrolysis of ?-1,4 and ?-1,6 links of glycogen. The enzyme deficiency leads to lysosomal a
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Hermans, Monique Maria Petra. "Structural and functional analysis of lysosomal [alpha]-glucosidase in relation to glycogen storage disease type II." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 1993. http://hdl.handle.net/1765/13746.

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Curlis, Yvette M. "Attitudes towards newborn screening for Pompe disease among affected adults, family members and parents of 'healthy' children /." Connect to thesis, 2009. http://repository.unimelb.edu.au/10187/7065.

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Pompe disease is a rare autosomal recessive condition caused by a deficiency in lysosomal alpha glucosidase. It is a progressive and often fatal muscular disease with wide variation in clinical presentation. Two broad clinical categories of Pompe disease have been identified; infantile- and late- onset. In the past decade, enzyme replacement therapy has shown promising results in treating the underlying pathology, resulting in improved clinical outcome. Clinical trials indicating that initiation of treatment at an earlier disease stage leads to a higher chance of preventing permanent damage ha
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Cecchi, Alana. "Analysis of Parental Perception of Swallowing and Voice in Infants and Children with Pompe Disease." University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307125630.

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Schleissing, Mary Rucker. "Biochemical and functional analysis after in utero delivery of recombinant adeno-associated virus to a mouse model of glycogen storage disease type II." [Gainesville, Fla.] : University of Florida, 2002. http://purl.fcla.edu/fcla/etd/UFE0000603.

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Matsunaga, Erika Midoli. "Distribuição do tipo de fibras musculares e sua correlação genotípica na doença de Pompe." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-29042009-102848/.

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A doença de Pompe (GSDII), autossômica recessiva, é causada pela deficiência da enzima lisossomal que degrada o glicogênio, -glucosidase ácida (GAA). O quadro clínico varia de acordo com a idade de início da doença, grau de progressão e envolvimento dos tecidos: predominantemente cardíaco e muscular esquelético na forma de início-precoce (FIP) e mais restrito no músculo esquelético na forma de início-tardio (FIT). A sobrevida média na FIP é de 9-12 meses. Com avanço dos métodos histológicos, histoquímicos e imunoistoquímicos intensificou-se a análise estrutural e funcional dos tipos de fibras
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Bhattacharya, K. "Improvement of the nutritional management of glycogen storage disease type I." Thesis, University College London (University of London), 2010. http://discovery.ucl.ac.uk/19282/.

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The nutritional management of glycogen storage disease has often been called “the intensive regimen”. The intensive regimen may not be without consequence. This thesis aims to characterise the intensive regimen and implement changes. Chapter 1 discusses concepts of glucose homeostasis in humans and introduces the glycogen storage diseases as a group of disorders. The metabolic physiology of those glycogen storage disorders associated with hypoglycaemia are reviewed and traditional methods used to ameliorate these metabolic disturbances are discussed. Methods used in the study include cornstarc
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Crane, Bayley. "Efficacy of Gene Therapy in Dogs with Glycogen Storage Disease Type Ia." NCSU, 2009. http://www.lib.ncsu.edu/theses/available/etd-03202009-163526/.

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Glycogen storage diseases (GSD) are inherited metabolic disorders that affect glycogen use and storage. People with GSD Ia lack the enzyme glucose-6-phosphatase (G6Pase). As a result, these people are unable to convert liver glycogen to free glucose and develop severe hypoglycemia. Patients with GSD also develop growth retardation, hepatomegaly, renomegaly, hypertriglyceridemia, hypercholesterolemia, and hyperlactacidemia. No cure for GSD Ia currently exists. Patients are treated symptomatically with repeated naso-gastric feedings and glucose infusions to maintain normal blood glucose concentr
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Ichikawa, Shoji. "The molecular genetic analysis of three human neurological disorders." free online free to MU campus, others may purchase, 2002. http://wwwlib.umi.com/cr/mo/preview?3074409.

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Books on the topic "Glycogen storage disease type II"

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Filosto, Massimiliano. Advances in diagnosis and management of glycogenosis II. Nova Science Publishers, 2011.

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Crowley, John F. Chasing miracles: The Crowley family journey of strength, hope, and joy. Newmarket Press, 2010.

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Anand, Geeta. The Cure. HarperCollins, 2009.

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Burtis, Quentin. Coloring Book - You Will Get Better - Glycogen Storage Disease Type II. Independently Published, 2021.

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Toscano, Antonio, Massimiliano Filosto, and Alessandro Padovani. Advances in Diagnosis and Management of Glycogenosis II. Nova Science Publishers, Incorporated, 2013.

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Jr, Thomas Fraites. Muscle-directed Gene and Enzyme Replacement Therapies for Glycogen Storage Disorder Type II Pompe Disease. Dissertation Discovery Company, 2019.

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Jr, Thomas Fraites. Muscle-directed Gene and Enzyme Replacement Therapies for Glycogen Storage Disorder Type II Pompe Disease. Dissertation Discovery Company, 2019.

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Anand, Geeta. The Cure: How a Father Raised $100 Million--And Bucked the Medical Establishment--In a Quest to Save His Children. William Morrow, 2006.

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Anand, Geeta. The Cure: How a Father Raised $100 Million--And Bucked the Medical Establishment--In a Quest to Save His Children. William Morrow, 2006.

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van der Ploeg, Ans T., and Pascal Laforêt. Pompe Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0055.

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Pompe disease, also named acid maltase deficiency and glycogen storage disease type II (GSDII), is a rare autosomal recessive disorder caused by the deficiency of the glycogen-degrading lysosomal enzyme acid α‎-glucosidase. The clinical spectrum of this disease is broad, varying from a lethal infantile-onset generalized myopathy including cardiomyopathy, to late-onset slowly progressive muscle weakness mimicking limb-girdle muscular dystrophy. Respiratory insufficiency is a frequent complication and the main cause of death. The prognosis of Pompe disease has changed considerably with the use o
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Book chapters on the topic "Glycogen storage disease type II"

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Hers, H. G. "Glycogen Storage Disease, Type II." In Ciba Foundation Symposium - Control of Glycogen Metabolism. John Wiley & Sons, Ltd., 2008. http://dx.doi.org/10.1002/9780470719343.ch25.

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Timson, David J., Richard J. Reece, James B. Thoden, et al. "Glycogen Storage Disease Type II." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_713.

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Shin, Y. S., M. Rieth, J. Tausenfreund, and W. Endres. "First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III." In Studies in Inherited Metabolic Disease. Springer Netherlands, 1989. http://dx.doi.org/10.1007/978-94-009-1069-0_30.

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Lam, J., L. J. Lubbers, M. S. J. Naeff, and G. Losekoot. "Glycogen Storage Disease Type II (Pompe’s Disease): Electrocardiographic and Echocardiographic Features." In Pediatric Cardiology. Springer New York, 1986. http://dx.doi.org/10.1007/978-1-4613-8598-1_297.

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Mansour, Eli, and Ana Flavia Bernardes Sousa. "Glycogen Storage Disease Type 1b." In Encyclopedia of Medical Immunology. Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4614-8678-7_136.

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Manners, D. J. "Glycogen Storage Disease, Type I." In Ciba Foundation Symposium - Control of Glycogen Metabolism. John Wiley & Sons, Ltd., 2008. http://dx.doi.org/10.1002/9780470719343.ch23.

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Larner, Joseph. "Glycogen Storage Disease, Type V." In Ciba Foundation Symposium - Control of Glycogen Metabolism. John Wiley & Sons, Ltd., 2008. http://dx.doi.org/10.1002/9780470719343.ch26.

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Chen, Harold. "Glycogen Storage Disease, Type 2." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_108-2.

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Mansour, Eli, and Ana Flavia Bernardes Sousa. "Glycogen Storage Disease Type 1b." In Encyclopedia of Medical Immunology. Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4614-9209-2_136-1.

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Timson, David J., Richard J. Reece, James B. Thoden, et al. "Glycogen Storage Disease Type I." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7197.

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Conference papers on the topic "Glycogen storage disease type II"

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Kallenbach, Michael, Petra May, David Pullmann, et al. "Incidence of hepatic adenomas in adult glycogen storage disease type Ia/b." In 39. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0042-1759983.

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Yahşi, Aysun, Tuğba Erat, Halil Özdemir, et al. "P274 An unexpected disease in an infant with pancytopenia and pulmonary abscess: glycogen storage disease type 1b." In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.362.

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Wang, Shutao, Balasundar I. Raju, Evgeniy Leyvi, David A. Weinstein, and Ralf Seip. "Acoustically accessible window determination for ultrasound mediated treatment of glycogen storage disease type Ia patients." In 11TH INTERNATIONAL SYMPOSIUM ON THERAPEUTIC ULTRASOUND. AIP, 2012. http://dx.doi.org/10.1063/1.4757373.

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Bell, Alexandra, and Ahmed Al-Mukhtar. "P087 Liver transplant in Glycogen Storage Disease Type 1a; a case that disputes current guidelines." In Abstracts of the British Association for the Study of the Liver Annual Meeting, 22–24 November 2021. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2021. http://dx.doi.org/10.1136/gutjnl-2021-basl.95.

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Kuriakose, Kevin, Diane Green, Alison Woodall, and Reena Sharma. "P242 Hepatocellular carcinoma incidence in adult patients with glycogen storage disease type III (GSD 3)." In Abstracts of the BSG Annual Meeting, BSG LIVE’25, 23–26 June 2025, SEC Glasgow. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2025. https://doi.org/10.1136/gutjnl-2025-bsg.376.

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Ke, Li,. "Recurrence Quantification Analysis of Sustained Sub-Maximal Grip Force in Patients with Glycogen Storage Disease Type III." In Modeling and Control in Biomedical Systems, edited by Rees, Stephen, chair Andreassen, Steen and Andreassen, Steen. Elsevier, 2009. http://dx.doi.org/10.3182/20090812-3-dk-2006.00067.

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Merrigan, Christine, Orla Purcell, Eimear Forbes, Jenny Mc Nulty, Emma Lally, and Prof Ellen Crushell. "GP229 The use of the ketogenic diet in a metabolic patient with glycogen storage disease type IIIa." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.288.

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Quackenbush, David, Justin Devito, Luigi Garibaldi, and Melissa Buryk. "Late Presentation of Glycogen Storage Disease Type Ia and Iii in Children with Short Stature and Hepatomegaly*." In Selection of Abstracts From NCE 2016. American Academy of Pediatrics, 2018. http://dx.doi.org/10.1542/peds.141.1_meetingabstract.753.

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Pellegrino, Francesco, Aimee Wiseman, Lucy Jackman, Leanne Goh, and Edward Gaynor. "OC81 Eosinophilic esophagitis successfully treated with elimination diet and proton pump inhibitors in a patient with glycogen storage disease type 9c." In Abstracts of the BSPGHAN 38th Annual Meeting, 20–22 March 2024, The Bristol Hotel, Bristol, UK. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/flgastro-2024-bspghan.77.

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Li, Ling-Hui, Li-Ya Chiu, Priya S. Kishnani, et al. "Abstract 518: Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-518.

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