Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots-Reference-Cited by-同舟云学术

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots

Published:2007-04 Issue:4 Volume:90 Page:449-452
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Kallwass Helmut,Carr Cortney,Gerrein Joseph,Titlow Mariah,Pomponio Robert,Bali Deeksha,Dai Jian,Kishnani Priya,Skrinar Alison,Corzo Deyanira,Keutzer Joan

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency;Hirschhorn,2000

2. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature;van den Hout;Pediatrics,2003

3. Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;Kishnani;J. Pediatr.,2006

4. The natural history of non-classic Pompe’s disease; a review of 225 published cases;Winkel;J. Neurol.,2005

5. Recombinant human α-glucosidase from rabbit milk in Pompe patients;van den Hout;Lancet,2000

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