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Libri sul tema "Glycogen storage disease type III"

Autore: Grafiati

Pubblicato: 14 dicembre 2024

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1

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

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2

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

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3

Anand, Geeta. The Cure. New York: HarperCollins, 2009.

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4

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

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5

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

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Abstract (sommario):

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 of enzyme replacement therapy using recombinant acid α‎-glucosidase (alglucosidase alfa), which has been widely available since 2006. Improvements in survival and major motor achievements can be observed in patients with infantile forms, and recent studies demonstrate improvement of walking distance and stabilization of pulmonary function in late-onset forms. A longer-term study of the safety and efficacy of ERT, based on data gathering across the complete spectrum of Pompe disease via national or international patient registries, is needed in order to formulate more precise guidelines for treatment.

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6

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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7

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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8

Anand, Geeta. Cure: How a Father Raised $100 Million--and Bucked the Medical Establishment--in a Quest to Save His Children. HarperCollins Publishers, 2009.

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9

Anand, Geeta. Cure: How a Father Raised $100 Million--and Bucked the Medical Establishment--in a Quest to Save His Children. HarperCollins Publishers, 2009.

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10

Anand, Geeta. Cure: How a Father Raised $100 Million--and Bucked the Medical Establishment--in a Quest to Save His Children. HarperCollins Publishers, 2010.

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11

Anand, Geeta. Cure: How a Father Raised $100 Million--and Bucked the Medical Establishment--in a Quest to Save His Children. HarperCollins Publishers, 2009.

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12

Anand, Geeta. Cure: How a Father Raised $100 Million--And Bucked the Medical Establishment--in a Quest to Save His Children. HarperCollins Publishers, 2009.

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13

Anand, Geeta. Cure: How a Father Raised $100 Million--and Bucked the Medical Establishment--in a Quest to Save His Children. HarperCollins Publishers, 2009.

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14

Anand, Geeta. The Cure: How a Father Raised $100 Million--and Bucked the Medical Establishment--in a Quest to Save His Children. Harper Paperbacks, 2009.

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15

Cassiman, David, Pascal Laforêt e Fanny Mochel. Glycogen Storage Disorders. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0001.

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Abstract (sommario):

Glucose is the body’s major energy source, and carbohydrate serves as fuel—particularly during high-intensity exercise that requires rapid energy release. A deficiency of any of the enzymes involved in the catabolism of glycogen to glucose may cause symptoms, with hypoglycemia and exercise intolerance as the most common presentations. Glycogen storage disorders (GSD) affect muscle, liver, and brain. The most common GSDs affecting muscle are GSD II (Pompe disease) and GSD V (McArdle disease). GSDs affecting mainly the liver are GSD I, III, IV, VI, IX, XI. Most liver-GSDs present during infancy, with symptoms of hypoglycemia, impressive hepatomegaly, and retarded growth. Adult presentations have been reported for GSD Ia, III, IV, and IX.Adult polyglucosan body disease (APBD) is the main GSD affecting primarily the brain and mainly characterized by spastic paraplegia, axonal neuropathy and leukodystrophy. APBD is a subtype of GSD IV and is due to a deficiency of glycogen branching enzyme (GBE). Besides GSD IV, other GSDs have been reported to have CNS effects in some patients—notably GSD II and GSD III.

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16

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

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17

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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18

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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