Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood
Patel, Bimal, Pendyal, Surekha, Kishnani, Priya S., McDonald, Marie, Bailey, Lauren
Published in JIMD Reports, Volume 40 (01.01.2018)
Published in JIMD Reports, Volume 40 (01.01.2018)
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Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease
Pena, Loren D. M., Proia, Alan D., Kishnani, Priya S.
Published in JIMD Reports, Volume 23 (01.01.2015)
Published in JIMD Reports, Volume 23 (01.01.2015)
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Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
Bali, Deeksha S., Goldstein, Jennifer L., Fredrickson, Keri, Austin, Stephanie, Pendyal, Surekha, Rehder, Catherine, Kishnani, Priya S.
Published in JIMD Reports, Volume 37 (01.01.2017)
Published in JIMD Reports, Volume 37 (01.01.2017)
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A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV
Yi, Haiqing, Zhang, Quan, Yang, Chunyu, Kishnani, Priya S., Sun, Baodong
Published in JIMD Reports, Volume 30 (01.01.2016)
Published in JIMD Reports, Volume 30 (01.01.2016)
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Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
Mori, Mari, Bailey, Lauren A., Estrada, Januario, Rehder, Catherine W., Li, Jennifer S., Rogers, Joseph G., Bali, Deeksha S., Buckley, Anne F., Kishnani, Priya S.
Published in JIMD Reports, Volume 31 (01.01.2017)
Published in JIMD Reports, Volume 31 (01.01.2017)
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Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease
McNamara, Erin R., Austin, Stephanie, Case, Laura, Wiener, John S., Peterson, Andrew C., Kishnani, Priya S.
Published in JIMD Reports, Volume 20 (01.01.2015)
Published in JIMD Reports, Volume 20 (01.01.2015)
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Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease
McNamara, Erin R., Sullivan, Jennifer, Nagaraj, Shashi K., Wiener, John S., Kishnani, Priya S.
Published in JIMD Reports, Volume 15 (01.01.2015)
Published in JIMD Reports, Volume 15 (01.01.2015)
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