Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge

Neurology

Volumn 86, Issue 13, 2016, Pages 1260-1261

  Ebbink, Berendine J ^a   Poelman, Esther ^a   Plug, Iris ^a   Lequin, Maarten H ^a   Van Doorn, Pieter A ^a   Aarsen, Femke K ^a   Van Der Ploeg, Ans T ^a   Van Den Hout, Johanna M P ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; ENZYME;

CASE REPORT; CHILD; CLASSIC INFANTILE POMPE DISEASE; COGNITIVE DEFECT; COGNITIVE DEVELOPMENT; DRUG DOSE INCREASE; ENZYME REPLACEMENT; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOBLOTTING; INTELLECTUAL IMPAIRMENT; MALE; NEUROPSYCHOLOGICAL TEST; NOTE; PRIORITY JOURNAL; PROBLEM BEHAVIOR; SCHOOL CHILD; COGNITION DISORDERS; COMPLICATION; GLYCOGEN STORAGE DISEASE TYPE II;

CHILD; COGNITION DISORDERS; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE;

EID: 84962921727     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002523     Document Type: Note

References (5)

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2. Ebbink B, Aarsen F, van Gelder C, et al. Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology 2012;78:1512-1518
3. Spiridigliozzi G, Heller J, Kishnani P. Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: a long-term follow-up. Am J Med Genet C Semin Med Genet 2012; 160C:22-29
4. Chien Y, Lee N, Peng S, Hwu W. Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy. Pediatr Res 2006;60:349-352
5. Rohrbach M, Klein A, Kohli-Wiesner A, et al. CRIM-negative infantile Pompe disease: 42-month treatment outcome. J Inherit Metab Dis 2010;33:751-757.