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Cheryl R. Greenberg

University of Manitoba

184

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11222

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A Case Series and Review of CDKL5 Deficiency Disorder: More than Rett

2020
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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

2020 Orphanet Journal of Rare Diseases
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Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

2020 Clinical Dysmorphology
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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.

2020 Orphanet Journal of Rare Diseases
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Isolated sulfite oxidase deficiency: a founder mutation.

2020
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Population-Based Screening for Severe Combined Immunodeficiency in Manitoba, Canada

2018
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Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys

2017 Trials
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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

2017 Journal of Inherited Metabolic Disease
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Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

2016 Orphanet Journal of Rare Diseases
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Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

2016 Neurology
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Citations (95)