Pankaj Prasun

13PUBLICATIONS
3CO-AUTHORS
Neurology and neuromuscular diseasesFoetal development and medicineInfant and child healthNeonatologyNutrigenomics and personalised nutrition
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Publications (13)

|May 22, 2026
Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.

|Oct 16, 2025
Eph-ephrin signaling and its potential role in female reproductive tract development.

Pankaj Prasun

|Aug 26, 2025
ANKS1B is a potential candidate gene for short stature and failure to thrive in children.

Pankaj Prasun, Rebecca C Pulvermacher

|Aug 08, 2025
Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder.

Pankaj Prasun, Elizabeth Kellom, Kimberly Stepien

|Jul 09, 2025
GNB1 haploinsufficiency presents as monogenic obesity syndrome.

Pankaj Prasun, Katelyn J Watkin

|Jun 23, 2025
Cobalamin E Disease: An Ultrarare Treatable Cause of Hemolytic Anemia in Infancy.

Pankaj Prasun, Jennifer R Suarez, Katelyn J Watkin

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Frequent Collaborators

1 joint publications

Bryn D Webb

1 joint publications

Utkarsh Kohli

1 joint publications

Kimberly Stepien