Enzyme replacement therapy for infantile-onset pompe disease: Curse or cure?

Neurology

Volumn 71, Issue 5, 2008, Pages 380-381

  Willems, Jef ^a   Petros, Andy ^a   Brierley, Joe ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN;

AGE; ARTICLE; ARTIFICIAL VENTILATION; BREATHING MUSCLE; CASE REPORT; DISEASE COURSE; DRUG EFFECT; ENZYMOLOGY; FATALITY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LYSOSOME; MALE; METABOLISM; MUSCLE WEAKNESS; NEWBORN; PATHOPHYSIOLOGY; RESPIRATORY FAILURE; STATISTICS; TREATMENT FAILURE;

AGE FACTORS; DISEASE PROGRESSION; FATAL OUTCOME; FEMALE; GLUCAN 1,4-ALPHA-GLUCOSIDASE; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; LYSOSOMES; MALE; MUSCLE WEAKNESS; RESPIRATION, ARTIFICIAL; RESPIRATORY INSUFFICIENCY; RESPIRATORY MUSCLES; TREATMENT FAILURE; VENTILATOR WEANING;

EID: 67649259008     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000319722.16673.27     Document Type: Article

References (3)

1. Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004;144(5 suppl):S35-43.
2. van den Hout HMP, Hop W, van Diggelen OP, et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332-340.
3. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid a- glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68:99-109.