Course of disability and respiratory function in untreated late-onset Pompe disease

Neurology

Volumn 66, Issue 4, 2006, Pages 581-583

  Hagemans, M L C ^a,b   Hop, W J C ^b   Van Doom, P A ^b   Reuser, A J J ^b   Van Der Ploeg, A T ^a  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DISABILITY; DISEASE COURSE; FEMALE; FOLLOW UP; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; MAJOR CLINICAL STUDY; MALE; PHYSICAL ACTIVITY; PRIORITY JOURNAL; QUESTIONNAIRE; RESPIRATORY FUNCTION; SURVIVAL; DISABLED PERSON; LUNG FUNCTION TEST; MIDDLE AGED; ONSET AGE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; TIME;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; DISABLED PERSONS; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MIDDLE AGED; QUESTIONNAIRES; RESPIRATORY FUNCTION TESTS; TIME FACTORS;

EID: 33644994280     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000198776.53007.2c     Document Type: Article

References (10)

1. Hirschhorn R, Reuser AJJ. Glycogen storage disease type II; acid α-glucosidase (acid maltase) deficiency. In: Scriver, CR, Beaudet A, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill, 2001:3389-3420.
2. Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 2000;356:397-398.
3. Winkel LP, Van den Hout JM, Kamphoven JH, et al. Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol 2004;55:495-502.
4. Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005;15:24-31.
5. Ausems MGEM, Verbiest J, Hermans MMP, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7:713-716.
6. Van den Hout JMP, 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.
7. Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005;128 (pt 3):671-677.
8. Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 2005;64:2139-2141.
9. Merkies IS, Schmitz PI, Van der Meche FG, Samijn JP, Van Doorn PA. Psychometric evaluation of a new handicap scale in immune-mediated polyneuropathies. Muscle Nerve 2002;25:370-377.
10. Makos MM, McComb RD, Hart MN, Bennett DR. Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship. Ann Neurol 1987;22:629-633.