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Biochimica Et Biophysica Acta|October 20, 2006
Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and futureJudith A Hobert, Glyn Dawson
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2009
PTEN hamartoma tumor syndrome: an overviewJudith A Hobert, Charis Eng
Biochemical and Biophysical Research Communications|May 8, 2007
A novel role of the Batten disease gene CLN3: association with BMP synthesisJudith A Hobert, Glyn Dawson
Molecular Genetics and Metabolism|February 13, 2025
Retrospective review of urine organic acids data from patients with citrullinemia type I - Looking for the 'cyclic derivative of citrulline'Stephen A Brose, Judith A Hobert
Current Protocols in Human Genetics|October 12, 2016
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)Judith A Hobert, Aiping Liu, Marzia Pasquali
Methods in Molecular Biology (Clifton, N.J.)|September 20, 2022
Quantitation of Butyrylcarnitine, Isobutyrylcarnitine, and Glutarylcarnitine in Urine Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)Judith A Hobert, Stephen A Brose, Marzia Pasquali
Current Protocols|April 26, 2023
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS)Judith A Hobert, Rebecca Guymon, Tatiana Yuzyuk, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 11, 2021
Quantitative analysis of urine acylglycines by ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS): Reference intervals and disease specific patterns in individuals with organic acidemias and fatty acid oxidation disordersJudith A Hobert, Irene De Biase, Tatiana Yuzyuk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2012
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individualsJudith A Hobert, Jessica L Mester, Jessica Moline, et al.
JIMD Reports|June 21, 2018
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) DeficiencyColleen M Carlston, Sacha Ferdinandusse, Judith A Hobert, et al.
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