Laura E. Case

Duke University — United States

Medicine · Health Sciences

33h-index9.4kcitations123works2.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(74), Glycogen Storage Diseases and Myoclonus(61), Child Nutrition and Feeding Issues(19), Carbohydrate Chemistry and Synthesis(15), Cerebral Palsy and Movement Disorders(15)

Publications123 total

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review
Molecular Genetics and Metabolism·2026
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience
Genetics in Medicine·2025· 1 citedOpen Access
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease
Molecular Genetics and Metabolism·2025
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation
Molecular Genetics and Metabolism Reports·2024· 3 citedOpen Access
Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States
Molecular Genetics and Metabolism·2024
IOPD entering adulthood: Lessons from two decades of ERT experience
Molecular Genetics and Metabolism·2024
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
Frontiers in Genetics·2024· 10 citedOpen Access
Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of <scp>AAV8</scp> vector‐mediated gene therapy
JIMD Reports·2023· 2 citedOpen Access
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
Molecular Genetics and Metabolism Reports·2023· 2 citedOpen Access
Phase I study of liver depot gene therapy in late-onset Pompe disease
Molecular Therapy·2023· 40 citedOpen Access
Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening
Molecular Genetics and Metabolism·2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
Molecular Genetics and Metabolism·2023· 43 cited
O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*
Genetics in Medicine Open·2023· 1 citedOpen Access
Motor function and safety after allogeneic cord blood and cord tissue‐derived mesenchymal stromal cells in cerebral palsy: An open‐label, randomized trial
Developmental Medicine & Child Neurology·2022· 40 citedOpen Access
A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW OF ADULT PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE III
Molecular Genetics and Metabolism·2022· 4 cited
Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening
Molecular Genetics and Metabolism·2022· 1 cited
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
Molecular Genetics and Metabolism·2022· 32 cited
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
Molecular Genetics and Metabolism Reports·2021· 17 citedOpen Access
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature
Molecular Genetics and Metabolism·2021· 6 citedOpen Access
Umbilical Cord Blood and Umbilical Cord Tissue Mesenchymal Stromal Cells in Children with Cerebral Palsy: A Randomized Trial
Stem Cells Translational Medicine·2021Open Access
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Frequent Co-authors

Priya S. Kishnani(33), Harrison N. Jones(10), Deeksha Bali(9), Stephanie Austin(8), Sarah P. Young(7), Paula R. Clemens(5), Joanne Mackey(5), Stephanie DeArmey(5), Mohamad A. Mikati(5), Edward C. Smith(5), Dwight D. Koeberl(5), K. Bushby(4), David J. Birnkrant(4), Richard M. Kravitz(4), Jessica Sun(4), Joanne Kurtzberg(4), Kelly D. Crisp(4), Crista Walters(4), Linda Cripe(3), Craig M. McDonald(3)