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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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  givenname: Jennifer L
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  organization: Duke Biochemical Genetics Laboratory, 801 Capitola Drive, Ste 6, Durham, NC 27713, United States
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  surname: JIAN DAI
  fullname: JIAN DAI
  organization: Duke Biochemical Genetics Laboratory, 801 Capitola Drive, Ste 6, Durham, NC 27713, United States
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  surname: MACKEY
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  organization: Duke Biochemical Genetics Laboratory, 801 Capitola Drive, Ste 6, Durham, NC 27713, United States
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  givenname: Catherine
  surname: REHDER
  fullname: REHDER, Catherine
  organization: Duke Biochemical Genetics Laboratory, 801 Capitola Drive, Ste 6, Durham, NC 27713, United States
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  givenname: Priya S
  surname: KISHNANI
  fullname: KISHNANI, Priya S
  organization: Duke Biochemical Genetics Laboratory, 801 Capitola Drive, Ste 6, Durham, NC 27713, United States
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Issue 1
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
Language English
License CC BY 4.0
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PublicationCentury 2000
PublicationDate 2012
PublicationDateYYYYMMDD 2012-01-01
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PublicationPlace Hoboken, NJ
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PublicationTitle American journal of medical genetics. Part C, Seminars in medical genetics
PublicationYear 2012
Publisher Wiley-Liss
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StartPage 40
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
Volume 160
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