PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Author:

Johnstone Devon L12,Al-Shekaili Hilal H34,Tarailo-Graovac Maja3456,Wolf Nicole I7,Ivy Autumn S8,Demarest Scott9,Roussel Yann2,Ciapaite Jolita10,van Roermund Carlo W T11,Kernohan Kristin D1,Kosuta Ceres12,Ban Kevin12,Ito Yoko1,McBride Skye1,Al-Thihli Khalid12,Abdelrahim Rana A13,Koul Roshan14,Al Futaisi Amna14,Haaxma Charlotte A15,Olson Heather16,Sigurdardottir Laufey Yr17,Arnold Georgianne L18,Gerkes Erica H19,Boon M20,Heiner-Fokkema M Rebecca21,Noble Sandra2,Bosma Marjolein10,Jans Judith1022,Koolen David A23,Kamsteeg Erik-Jan24,Drögemöller Britt425,Ross Colin J425,Majewski Jacek2627,Cho Megan T28,Begtrup Amber28,Wasserman Wyeth W4,Bui Tuan2,Brimble Elise29,Violante Sara30,Houten Sander M30,Wevers Ron A2231,van Faassen Martijn21,Kema Ido P21,Lepage Nathalie1,Lines Matthew A132,Dyment David A133,Wanders Ronald J A1122,Verhoeven-Duif Nanda1022,Ekker Marc2,Boycott Kym M133,Friedman Jan M34,Pena Izabella A12,van Karnebeek Clara D M4223435,

Affiliation:

1. Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada

2. Department of Biology, University of Ottawa, Ottawa, ON, Canada

3. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

4. British Columbia Children’s Hospital Research Institute, Vancouver, BC, Canada

5. Institute of Physiology and Biochemistry, Faculty of Biology, The University of Belgrade, Belgrade, Serbia

6. Departments of Biochemistry, Molecular Biology, and Medical Genetics, Cumming School of Medicine, Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, AB, Canada

7. Department of Child Neurology, Amsterdam University Medical Centres, Amsterdam Neuroscience, Amsterdam, The Netherlands

8. Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University School of Medicine, CA, USA

9. Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Children’s Hospital Colorado, CO, USA

10. Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands

11. Department of Pediatrics and Clinical Chemistry, Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands

12. Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman

13. Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman

14. Paediatric Neurology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman

15. Department of Pediatric Neurology, Amalia Children’s Hospital and Donders Institute of Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

16. Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, Boston, MA, USA

17. Department of Neurology, University of Central Florida, Nemours Children’s Hospital, Orlando, FL, USA

18. Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburg, PA, USA

19. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands

20. Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands

21. Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands

22. United for Metabolic Diseases, The Netherlands

23. Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands

24. Genome Diagnostics Nijmegen, Nijmegen, The Netherlands

25. Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada

26. McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada

27. Department of Human Genetics, McGill University, Montreal, QC, Canada

28. GeneDx Inc., Gaithersburg, MD, USA

29. Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA

30. Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA

31. Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands

32. Division of Metabolics and Newborn Screening, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

33. Department of Medical Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

34. Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands

35. Centre for Molecular Medicine and Therapeutics, Department of Pediatrics, University of British Columbia, Vancouver, Canada

Funder

B.C. Children’s Hospital Foundation

Collaborative Area of Innovation

Genome British Columbia

Michael Smith Foundation for Health Research

Canadian Institutes of Health Research

Rare Diseases Foundation

Canadian Rare Diseases Models and Mechanism Network

CHEO Foundation

National Ataxia Foundation

Natural Sciences and Engineering Research Council RTI

Vanier Canada Graduate Scholarship

CIHR postdoctoral fellowship award

CIHR Foundation grant

Ministry of Higher Education

TUBİTAK from Turkey

Michael Smith Foundation

Metakids Foundation salary award

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

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