Shailly Ghai-Jain

Edmonton, AB, Canada

Last Updated: 09/26/2026

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Found 17 publications

Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada.

Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada.

Journal: Molecular genetics and metabolism

Published: January 08, 2026

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

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.

Journal: Orphanet journal of rare diseases

Published: April 09, 2024

Family-centred care interventions for children with chronic conditions: A scoping review.

Family-centred care interventions for children with chronic conditions: A scoping review.

Journal: Health expectations : an international journal of public participation in health care and health policy

Published: June 30, 2023

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Journal: BMC pediatrics

Published: May 19, 2023

First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

Journal: Endocrinology, diabetes & metabolism case reports

Published: December 19, 2022

Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7.

Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7.

Journal: European journal of medical genetics

Published: April 14, 2022

Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.

Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.

Journal: BMJ open

Published: February 23, 2022

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Journal: The patient

Published: June 29, 2021

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Journal: Pediatrics

Published: March 22, 2021

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.

Journal: Molecular genetics and metabolism reports

Published: March 01, 2021

Adult-onset presentation of a urea cycle disorder necessitating intensive care unit admission.

Adult-onset presentation of a urea cycle disorder necessitating intensive care unit admission.

Journal: Canadian journal of anaesthesia = Journal canadien d'anesthesie

Published: January 07, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026