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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Published in | American journal of medical genetics. Part C, Seminars in medical genetics Vol. 160; no. 1; pp. 40 - 49 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
Published |
Hoboken, NJ
Wiley-Liss
2012
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Subjects | |
Online Access | Get full text |
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Author | MACKEY, Joanne KISHNANI, Priya S BALI, Deeksha S REHDER, Catherine BANUGARIA, Suhrad JIAN DAI GOLDSTEIN, Jennifer L |
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Keywords | 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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SubjectTerms | Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Errors of metabolism Medical genetics Medical sciences Metabolic diseases |
Subtitle | Advancements in Pompe Disease |
Title | Predicting Cross-Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned From 10 Years of Clinical Laboratory Testing Experience |
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