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Neelam A. Makhijani

Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease
2025 · Neelam Makhijani, Myriam Boueri, et al. · Molecular Genetics and Metabolism · 1
Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis
2025 · Iskren Menkovic, Monika Williams, et al. · Molecular Genetics and Metabolism Reports · 1
Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening
2026 · Laura E. Case, Erin Huggins, et al. · Molecular Genetics and Metabolism
Early enzyme replacement therapy in late onset Pompe disease diagnosed by newborn screening
2026 · Laura E. Case, Erin Huggins, et al. · Molecular Genetics and Metabolism
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing
2025 · Iskren Menkovic, Neelam Makhijani, et al. · Molecular Genetics and Metabolism Reports
P153: Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease*
2025 · Neelam Makhijani, Myriam Boueri, et al. · Genetics in Medicine Open
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Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States
2024 · Erin Huggins, Erica Nading, et al. · Molecular Genetics and Metabolism
Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening
2023 · Erin Huggins, Neelam A. Makhijani, et al. · Molecular Genetics and Metabolism
CEO and Country Director of ChildFund India
2021 · Neelam Makhijani · Apple Academic Press eBooks
Works count: 9
Citation count: 2
H-index: 1
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