Jennifer J. Mackenzie

Kingston, ON, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 33 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

Sirenomelia: An anatomical assessment and genetic sex determination of two cases.

Sirenomelia: An anatomical assessment and genetic sex determination of two cases.

Journal: Journal of anatomy

Published: August 16, 2023

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

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

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

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Journal: American journal of human genetics

Published: December 07, 2020

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Journal: Nature genetics

Published: August 27, 2020

A grounded theory study to identify caregiving phases and support needs across the Alzheimer's disease trajectory.

A grounded theory study to identify caregiving phases and support needs across the Alzheimer's disease trajectory.

Journal: Disability and rehabilitation

Published: July 21, 2020

Genetics of Colloid Cyst in Monozygotic Twins: Case Report and Review of Literature.

Genetics of Colloid Cyst in Monozygotic Twins: Case Report and Review of Literature.

Journal: World neurosurgery

Published: July 13, 2020

Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series.

Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series.

Journal: Movement disorders clinical practice

Published: May 28, 2020

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Journal: Orphanet journal of rare diseases

Published: December 09, 2019

Showing 1-12 of 33

Last Updated: 09/26/2026