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Parallel Biochemical and Genetic Testing Informs a Timely and Accurate Diagnosis of MPS VII: Findings from 5 Years of Sponsored Testing Programs

Vanessa Rangel Miller,Sean Daugherty,Rupal N. Gupta,Madhuri Hegde, Jennifer Johnson,Deborah Marsden,Laura Pollard, Eric Peng, Kate Simmons, Natalie Smith,Nicole Miller

Molecular Genetics and Metabolism（2024）

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Key words
Survival Motor Neuron Protein
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