Associated Papers
Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity.
Adhikari AN
Human Mutation, 2019
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Tortorelli S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N et al.
Clinical Chemistry, 2017
Somatic mutations in MAP3K5 attenuate its proapoptotic function in melanoma through increased binding to thioredoxin.
Prickett TD et al.
The Journal of Investigative Dermatology, 2014
24008424 (PubMed )
Supplement: NIHMS519689-supplement-01.pdf
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