Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2011_85
Reference12 articles.
1. Au KS, Williams AT, Roach ES et al (2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 9:88–100
2. Barker PC, Pasquali SK, Darty S et al (2010) Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy. Mol Genet Metab 101:332–337
3. Dabora SL, Jozwiak S, Franz DN et al (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64–80
4. De Cobelli F, Esposito A, Belloni E et al (2009) Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol 192:W97–W102
5. Ehlers KH, Hagstrom JW, Lukas DS, Redo SF, Engle MA (1962) Glycogen-storage disease of the myocardium with obstruction to left ventricular outflow. Circulation 25:96–109
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1. Infantile Pompe disease with intrauterine onset: a case report and literature review;Italian Journal of Pediatrics;2022-11-21
2. A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report;Journal of Pediatric Intensive Care;2020-07-15
3. Infantile Pompe disease: A case report and review of the Chinese literature;Experimental and Therapeutic Medicine;2015-11-12
4. Apical Hypertrophic Cardiomyopathy in an Infant;World Journal for Pediatric and Congenital Heart Surgery;2014-06-23
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