Predicting Cross-Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned From 10 Years of Clinical Laboratory Testing Experience Advancements in Pompe Disease

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Bibliographic Details
Published inAmerican journal of medical genetics. Part C, Seminars in medical genetics Vol. 160; no. 1; pp. 40 - 49
Main Authors BALI, Deeksha S, GOLDSTEIN, Jennifer L, BANUGARIA, Suhrad, JIAN DAI, MACKEY, Joanne, REHDER, Catherine, KISHNANI, Priya S
Format Journal Article
LanguageEnglish
Published Hoboken, NJ Wiley-Liss 2012
Subjects
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Errors of metabolism
Medical genetics
Medical sciences
Metabolic diseases
Pompe disease
Replacement therapy
enzyme replacement therapy
Enzyme
Glycogenosis II Pompe
GAA gene
Metabolic diseases
Laboratory
Enzymopathy
Genetic disease
acid alpha-glucosidase
Gene
Cross reaction
Genetics
Carbohydrate
cross-reactive immunological material
Mutation
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ISSN:1552-4868
1552-4876