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Your search keyword '"James C. DiPerna"' showing total 3 results
Start Over Author "James C. DiPerna" Journal molecular genetics and metabolism
3 results on '"James C. DiPerna"'

1. Rapid measurement of creatine, creatinine, and guanidinoacetate from dried blood spots: a possible screening assay for guanidinoacetate methyltransferase (GAMT) deficiency

Author

Sara Smith, James C. DiPerna, Madhuri Hegde, Erica Fox, and Taraka R. Donti

Subjects
medicine.medical_specialty, Spots, Guanidinoacetate methyltransferase, Chemistry, Endocrinology, Diabetes and Metabolism, Screening assay, Biochemistry, Guanidinoacetate N-methyltransferase, Endocrinology, Internal medicine, Genetics, medicine, Creatine/Creatinine, Dried blood, Molecular Biology
Published
2021

3. Six-plex MS/MS method to measure I2S, NAGLU, GALNS, ARSB, GUSB and TPP1 enzyme activities in dried blood spots

Author

František Tureček, James C. DiPerna, Anna M. Potier, Yang Liu, Alyssa Vranish, Joyce Liao, Zdenek Spacil, Fan Yi, Naveen Kumar Chennamaneni, Michael H. Gelb, Mack J. Schermer, Joe Trometer, Jason Cournoyer, Arun Kumar, and C. Ronald Scott

Subjects
chemistry.chemical_classification, Endocrinology, Chromatography, Enzyme, Spots, Chemistry, Endocrinology, Diabetes and Metabolism, Genetics, Measure (physics), Dried blood, Molecular Biology, Biochemistry
Published
2017

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