1.Kishnani PS., et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267–88.
2.Norwood FL., Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009; 132:3175-86.
3.Ross LF., et al. A Historical and Current Review of Newborn Screening for Neuromuscular Disorders From Around the World: Lessons for the United States. Pediatric Neurology. 2017;77: 12–22.
4.Chan J., et al., The emerging phenotype of late-onset Pompe disease: A systematic literature review; Molecular Genetics and Metabolism 120 (2017) 163–172.
5.Marsden D., Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study. Genet Med. 2005;7(2):147–50.
6.Kishnani PS, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr.2006;148:671–6.
7.Hirschhorn R. and Reuser AJ. 135: Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency In: Valle D, et al, eds. OMMBID – The Online Metabolic and Molecular Bases of Inherited Diseases. New York, NY: McGraw-Hill; 2013. https://ommbid.mhmedical.com/content.aspx?sectionid=62641992&bookid=971&Resultclick=2. (Accessed September 30th 2020).
8.https://www.wikirefua.org.il/w/index.php?title=%D7%9E%D7%97%D7%9C%D7%AA_%D7%A4%D7%95%D7%9E%D7%A4%D7%94_-_%D7%9E%D7%97%D7%9C%D7%AA_%D7%90%D7%92%D7%99%D7%A8%D7%AA_%D7%92%D7%9C%D7%99%D7%A7%D7%95%D7%92%D7%9F_%D7%9E%D7%A1%D7%95%D7%92_2_-_Pompe_disease_-_glycogen_storage_disease_type_2 (Accessed September 30th. 2020)
9.https://www.accessdata.fda.gov/drugsatfda_docs/nda/2006/125141s000_MyozymeTOC.cfm (Accessed at September 30th. 2020).
10. Myozyme IL prescribing information as approved/ updated in accordance with the instructions of the Ministry of Health
11.Gungor D., et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study; Orphanet Journal 2013 8:49 1-7
12.Kishnani PS., et al. Recombinant human acid α-glucosidase Major clinical benefits in infantile-onset Pompe disease Neurol. 2007; 68:99-109.
13.Nicolino M., et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar;11(3):210-9.
14.Van Der Ploeg AT., et al. A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease N Engl JMed 2010 April 362 (15) 1396-1406.
15.Yang CF et al. .Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes. J Pediatr. 2016 Feb;169:174-80.
16. https://data.health.gov.il/drugs/index.html#!/medDetails/135%2074%2031488%2000 (Accessed at September 30th 2020).
*Myozyme is indicated for long-term enzyme replacement therapy (ERT) in patients with a confirmed diagnosis of pompe disease (acid alpha-glucosidase deficiency). The benefits of Myozyme in patients with late-onset Pompe disease have not been established
יש לעיין בעלון לרופא המעודכן כפי שאושר בהתאם להוראות משה" ב
