Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

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Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

@zh-my

2015年学术文章

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2015年學術文章

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2015年學術文章

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2015年學術文章

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Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

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Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

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Item

label

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

@ast

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

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prefLabel

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

@ast

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

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P1476

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

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P2093

Catherine Rehder

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Deeksha S Bali

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Jennifer L Goldstein

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Jian Dai

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Kathryn L Berrier

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Priya S Kishnani

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P2860

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II

Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Pompe disease diagnosis and management guideline.

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.

Nonsense-mediated decay in genetic disease: friend or foe?

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

P304

76-79

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P31

scholarly article

P356

10.1016/J.YMGMR.2015.10.012

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P478

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P50

Zoheb Kazi

P577

2015-12-01T00:00:00Z

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P5875

283981467

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P698

26693141

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P932

4674832

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