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Author

Beth Leiro

ORCID: 0000-0003-0561-5955
Observed ORCID: 0000-0003-0561-5955
OpenAlex ID: A5072640705
Challenges and strategies for clinical trials in propionic and methylmalonic acidemias
2023 · Jerry Vockley, Barbara Burton, et al. · Molecular Genetics and Metabolism · 14
Physical therapy management of infants and children with hypophosphatasia
2016 · Dawn Phillips, Laura E. Case, et al. · Molecular Genetics and Metabolism · 13
Clinical Outcome Assessments: Use of Normative Data in a Pediatric Rare Disease
2018 · Dawn Phillips, Beth Leiro · Value in Health · 9
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Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients
2021 · Beth Leiro, Dawn Phillips, et al. · Orphanet Journal of Rare Diseases · 7
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Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective
2022 · Christine O’Brien, Gus Khursigara, et al. · PLoS ONE · 5
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Urine N -Acetylaspartate Distinguishes Phenotypes in Canavan Disease
2024 · Amanda Nagy, Florian Eichler, et al. · Human Gene Therapy · 3
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Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): Symptoms and the impact on function and activities of daily living (ADL)
2020 · Dawn Phillips, Beth Leiro, et al. · Molecular Genetics and Metabolism · 2
Feasibility, Acceptability, and Reliability of Remote Motor Assessment in Children With Canavan Disease
2025 · Michael Kiefer, Anzalee Khan, et al. · Pediatric Neurology · 1
Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review
2026 · Eileen M. Gillan, Beth Leiro, et al. · Journal of Inherited Metabolic Disease
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Measurement of Motor Function in Children With Canavan Disease: Concordance Between Remote and In-Person Assessments
2026 · Elise L. Townsend, Michael Kiefer, et al. · Pediatric Neurology
Abstract #1003877: The Lifelong Impact of ENPP1 Deficiency: Outcomes From a Patient and Caregiver Survey
2021 · Christine O'Brien, Beth Leiro, et al. · Endocrine Practice
From the voice of patients and caregivers: burden of illness in infantile onset ABCC6 and ENPP1 deficiency (GACI and ARHR2)
2021 · Christine O’Brien, Beth Leiro, et al. · Molecular Genetics and Metabolism
From the voice of patients and caregivers: Burden of illness in infantile onset ABCC6 and ENPP1 deficiency (GACI and ARHR2)
2021 · Christine O'Brien, Beth Leiro, et al. · Bone Reports
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Functional outcome measures in pediatric therapeutic intervention: Application and issues in a rare disease
2016 · Dawn L. Phillips, Beth Leiro · Molecular Genetics and Metabolism
Works count: 14
Citation count: 54
H-index: 5
I10-index: 2
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