Plphp Deficiency: Clinical, Genetic, Biochemical, And Mechanistic Insights

Autor: Johnstone, Devon L., Al-Shekaili, Hilal H., Tarailo-Graovac, Maja, Wolf, Nicole I., Ivy, Autumn S., Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo W. T., Kernohan, Kristin D., Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A., Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A., Olson, Heather

Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of which is poorly understood. When left untreated, the disease can progress

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=r39c86a4b39b::58ae87e20a26e74d5ac2d87ea69ea9cd
https://aperta.ulakbim.gov.tr/record/69699

Rituximab Treatment in Myasthaenia Gravis: Report of two paediatric cases.

Autor: Koul, Roshan, Al-Futaisi, Amna, Abdelrahim, Rana, Mani, Renjith, Abdwani, Reem, Al-Asmi, Abdullah

Publikováno v: Sultan Qaboos University Medical Journal; May2018, Vol. 18 Issue 2, pe223-e227, 5p

Autoimmune encephalitis in chlidren with negative antibodies; an experience in Sultan Qaboos University Hospital, Oman.

Autor: Abdelrahim, Rana A., Koul, R.L., Al futaisi, Amna, Mani, Renjith

Publikováno v: European Journal of Paediatric Neurology; Jun2017 Supplement 1, Vol. 21, pe110-e110, 1p

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

Autor: Johnstone DL; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Al-Shekaili HH; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada., Tarailo-Graovac M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Institute of Physiology and Biochemistry, Faculty of Biology, The University of Belgrade, Belgrade, Serbia.; Departments of Biochemistry, Molecular Biology, and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada., Wolf NI; Department of Child Neurology, Amsterdam University Medical Centres, Amsterdam Neuroscience, Amsterdam, The Netherlands., Ivy AS; Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University School of Medicine, CA, USA., Demarest S; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Children's Hospital Colorado, CO, USA., Roussel Y; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Ciapaite J; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands., van Roermund CWT; Department of Pediatrics and Clinical Chemistry, Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Kosuta C; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Ban K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Ito Y; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., McBride S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Al-Thihli K; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Abdelrahim RA; Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman., Koul R; Paediatric Neurology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., Al Futaisi A; Paediatric Neurology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute of Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Olson H; Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA, USA., Sigurdardottir LY; Department of Neurology, University of Central Florida, Nemours Children's Hospital, Orlando, FL, USA., Arnold GL; Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburg, PA, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Boon M; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Heiner-Fokkema MR; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Noble S; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Bosma M; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands., Jans J; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands.; United for Metabolic Diseases, The Netherlands., Koolen DA; 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., Kamsteeg EJ; Genome Diagnostics Nijmegen, Nijmegen, The Netherlands., Drögemöller B; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Ross CJ; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Majewski J; McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Cho MT; GeneDx Inc., Gaithersburg, MD, USA., Begtrup A; GeneDx Inc., Gaithersburg, MD, USA., Wasserman WW; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada., Bui T; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA., Violante S; 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., Houten SM; 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., Wevers RA; United for Metabolic Diseases, The Netherlands.; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Faassen M; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Kema IP; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Lepage N; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Lines MA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Wanders RJA; Department of Pediatrics and Clinical Chemistry, Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; United for Metabolic Diseases, The Netherlands., Verhoeven-Duif N; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands.; United for Metabolic Diseases, The Netherlands., Ekker M; Department of Biology, University of Ottawa, Ottawa, ON, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada., Pena IA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada., van Karnebeek CDM; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; United for Metabolic Diseases, The Netherlands.; Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Centre for Molecular Medicine and Therapeutics, Department of Pediatrics, University of British Columbia, Vancouver, Canada.

Publikováno v: Brain : a journal of neurology [Brain] 2019 Mar 01; Vol. 142 (3), pp. 542-559.