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  • Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies

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Biochemical genetics
Original article
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies

Authors

  • Michael Chong Genetic & Molecular Epidemiology Laboratory, Population Health Research Institute, David Braley Cardiac Vascular and Stroke Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada Department of Biochemistry & Biomedical Sciences, McMaster University Faculty of Health Sciences, Hamilton, Ontario, Canada PubMed articlesGoogle scholar articles
  • Grace Yoon Department of Neurology and Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Delia Susan-Resiga Department of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Ann Chamberland Department of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • David Cheillan Service de Biochimie et Biologie Moléculaire Grand Est, Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France PubMed articlesGoogle scholar articles
  • Guillaume Paré Genetic & Molecular Epidemiology Laboratory, Population Health Research Institute, David Braley Cardiac Vascular and Stroke Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, Ontario, Canada PubMed articlesGoogle scholar articles
  • Nabil G Seidah Department of Biochemical Neuroendocrinology, Clinical Research Institute of Montreal, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Nabil G Seidah, Biochemical neuroendocrinology, Clinical Research Institute of Montreal, Montreal, QC H2W 1R7, Canada; seidahn{at}ircm.qc.ca
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Citation

Chong M, Yoon G, Susan-Resiga D, et al
Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies
Journal of Medical Genetics 2020;57:11-17.

Publication history

  • Received February 25, 2019
  • Revised June 17, 2019
  • Accepted June 30, 2019
  • First published August 7, 2019.
Online issue publication 
May 18, 2023

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© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.