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Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

JIMD reports, 2020-09, Vol.55 (1), p.22-25

2020

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Excellence in clinical care is the most important thing, but not the only thing

Paediatrics & child health, 2019-02, Vol.24 (1), p.60-62

Kronick, Jonathan B

2019

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Exome sequencing identifies NFS1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II/III deficiency

Molecular genetics & genomic medicine, 2014-01, Vol.2 (1), p.73-80

2014

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Organic Acidemias

Pediatrics in review, 2022-03, Vol.43 (3), p.123

2022

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A Pediatric Residency Research Curriculum

The Journal of pediatrics, 2008-08, Vol.153 (2), p.153-154.e4

2008

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Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Orphanet journal of rare diseases, 2016-12, Vol.11 (1), p.168-168, Article 168

2016

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The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

Orphanet journal of rare diseases, 2016-02, Vol.11 (12), p.12-12, Article 12

2016

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Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.139-147

2016

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Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

Genetics in medicine, 2013-06, Vol.15 (6), p.415-422

2013

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Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians

Canadian journal of neurological sciences, 2019-11, Vol.46 (6), p.717-726

2019

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

The patient : patient-centered outcomes research, 2022-03, Vol.15 (2), p.171-185

2022

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Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

BMC pediatrics, 2015-02, Vol.15 (1), p.7-7, Article 7

2015

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Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians

Journal of inherited metabolic disease, 2012, Vol.35 (1), p.115-123

2012

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Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening

Paediatrics & child health, 2012-04, Vol.17 (4), p.185-189

2012

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The changing role of the paediatrician in the 21st century

Paediatrics & child health, 2009-05, Vol.14 (5), p.277-278

2009

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Exome sequencing identifies NFS 1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II / III deficiency

Molecular genetics & genomic medicine, 2014-01, Vol.2 (1), p.73-80

2014

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

BMC pediatrics, 2024-01, Vol.24 (1), p.37-37, Article 37

2024

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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

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.89-89, Article 89

2020

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Nutrition for healthy term infants, six to 24 months: An overview

Paediatrics & child health, 2014-12, Vol.19 (10), p.1-4

Critch, Jeffrey N

2014

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A portable nitric oxide scavenging system designed for use on neonatal transport

Critical care medicine, 1996-06, Vol.24 (6), p.1068-1071

1996

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Patient- and family-oriented outcomes for inborn errors of metabolism: The perspective of patient advocacy and support groups

Clinical biochemistry, 2014-10, Vol.47 (15), p.145-145

2014

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Patient- and family-oriented outcomes for inborn errors of metabolism: A scoping review

Clinical biochemistry, 2014-10, Vol.47 (15), p.149-149

2014

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Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Excellence in clinical care is the most important thing, but not the only thing

Exome sequencing identifies NFS1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II/III deficiency

Organic Acidemias

A Pediatric Residency Research Curriculum

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians

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

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians

Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening

The changing role of the paediatrician in the 21st century

Exome sequencing identifies NFS 1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II / III deficiency

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

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

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

Nutrition for healthy term infants, six to 24 months: An overview

A portable nitric oxide scavenging system designed for use on neonatal transport

Patient- and family-oriented outcomes for inborn errors of metabolism: The perspective of patient advocacy and support groups

Patient- and family-oriented outcomes for inborn errors of metabolism: A scoping review

A REDCap database to support longitudinal follow-up of pediatric patients with inborn errors of metabolism

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