
Neelam Makhijani
Assistant Professor, Genetics, Pediatrics · Wake Forest University Baptist Medical Center
Credentials: · · · ·
History
Research
Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis
Case report · Molecular Genetics and Metabolism Reports · 2025 · 2 citations
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease
Molecular Genetics and Metabolism · 2025 · First of 9 authors · 1 citations
Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening
Molecular Genetics and Metabolism · 2026

2 papers

2 papers · 2 as a resident
- AE
1 paper

1 paper · 1 as a resident

1 paper

1 paper · 1 as a resident
- HJ
1 paper

1 paper · 1 as a fellow




