Chitra K. Prasad

1151 Richmond Street
London, ON, Canada

Last Updated: 09/26/2026

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Found 107 publications

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.

Journal: Orphanet journal of rare diseases
Published: December 09, 2025

Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence.

Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence.

Journal: Molecular genetics and metabolism
Published: September 20, 2025

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.

Journal: JIMD reports
Published: August 06, 2025

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.

Journal: JIMD reports
Published: June 09, 2025

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Journal: Clinical genetics
Published: March 12, 2025

Long Term Follow up of Short-Chain-L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency Causing Hypoglycemia and Developmental Delays in Two Syrian Brothers.

Long Term Follow up of Short-Chain-L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency Causing Hypoglycemia and Developmental Delays in Two Syrian Brothers.

Journal: Indian journal of pediatrics
Published: February 26, 2025

Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature.

Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature.

Journal: Molecular genetics and metabolism reports
Published: February 13, 2025

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Journal: American journal of human genetics
Published: August 14, 2024

Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.

Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.

Journal: Med (New York, N.Y.)
Published: August 14, 2024

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Journal: Brain communications
Published: July 02, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics
Published: May 09, 2024

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Journal: American journal of human genetics
Published: March 20, 2024
Showing 1-12 of 107

Last Updated: 09/26/2026