Nishitha R. Pillai

Nishitha R. Pillai

Pediatrics | Medical Genetics

2450 Riverside Avenue
Floor 12
Minneapolis, MN 55454

Last Updated: 09/26/2026

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Found 35 publications

Central nervous system biomarkers in Fabry disease: Mechanisms, clinical evidence, and translational integration.

Central nervous system biomarkers in Fabry disease: Mechanisms, clinical evidence, and translational integration.

Journal: Molecular genetics and metabolism

Published: April 20, 2026

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis.

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis.

Journal: International journal of neonatal screening

Published: January 07, 2026

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 11, 2025

A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.

A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.

Journal: Journal of neuromuscular diseases

Published: October 28, 2025

A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States.

A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States.

Journal: Journal of medical economics

Published: September 04, 2025

Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC).

Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC).

Journal: Molecular genetics and metabolism

Published: May 18, 2025

A progeria syndrome links DNA hypermethylation to age-related pathology.

A progeria syndrome links DNA hypermethylation to age-related pathology.

Journal: Nature genetics

Published: April 07, 2025

Expanding the Phenotype Spectrum of β-Mannosidosis.

Expanding the Phenotype Spectrum of β-Mannosidosis.

Journal: Neurology. Genetics

Published: February 18, 2025

Prognostication and Biomarker Potential of C26:0 Lysophosphatidylcholine in Adrenoleukodystrophy.

Prognostication and Biomarker Potential of C26:0 Lysophosphatidylcholine in Adrenoleukodystrophy.

Journal: JAMA pediatrics

Published: February 10, 2025

Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase program.

Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase program.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 18, 2024

Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study.

Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study.

Journal: Molecular genetics and metabolism reports

Published: October 21, 2024

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.

Journal: JIMD reports

Published: October 14, 2024

Showing 1-12 of 35

Last Updated: 09/26/2026