Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy

Genetics in Medicine

Volumn 14, Issue 8, 2012, Pages 757-758

  Fernández, Cristina ^a,b   Legido, Agustín ^b   Jethva, Reena ^b   Marks, Harold G ^b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; FRUCTOSE BISPHOSPHATE ALDOLASE; PLACEBO; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADOLESCENT; CARDIOVASCULAR PARAMETERS; CASE REPORT; DOUBLE BLIND PROCEDURE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ENZYME REPLACEMENT; FAILURE TO THRIVE; FATIGUE; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HEART LEFT VENTRICLE MASS; HEART RIGHT VENTRICLE HYPERTROPHY; HUMAN; LETTER; MUSCLE MASS; MUSCLE STRENGTH; NEUROLOGIC EXAMINATION; PHYSIOTHERAPY; PR INTERVAL; SHORT PR INTERVAL; WEAKNESS;

EID: 84864718337     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.61     Document Type: Letter

References (3)

1. Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK; Late-Onset Treatment Study Investigators. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med 2011;13:625-631.
2. Chen LR, Chen CA, Chiu SN, et al. Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease. J Pediatr 2009;155:271-275.e2.
3. Ishigaki K, Murakami T, Nakanishi T, Oda E, Sato T, Osawa M. Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease. Brain Dev 2012;34:98-102.