Treatment outcome of creatine transporter deficiency: international retrospective cohort study

Metabolic Brain Disease - 2018
Theodora Bruun1, Sarah Sidky2, Anabela Bandeira3, F.G. Debray4, Can Fıçıcıoğlu5, Jennifer Goldstein6, Kairit Joost7, Dwight D. Koeberl6, Luísa Diogo8, Marie‐Cécile Nassogne9, Siobhán O’Sullivan10, Katrin Õunap7, Andreas Schulze11, Lionel Van Maldergem12, Gajja S. Salomons13, Saadet Mercimek‐Andrews14,15
1Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada
2Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada
3Pediatrics, Metabolic Unit, Centro Materno Infantil do Norte, Centro Hospitalar do Porto, Porto, Portugal
4Service of Human Genetics, CHU Liège, University of Liège, Liège, Belgium
5Department of Pediatrics, Division of Human Genetics, The Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
6Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, North, USA
7Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
8Metabolic Unit - Child Development Center, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal
9Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Woluwe-Saint-Lambert, Belgium
10Department of Metabolic Paediatrics, Royal Hospital for Sick Children, Belfast, UK
11Departments of Paediatrics and Biochemistry, University of Toronto, Toronto, ON, Canada
12Center for Human Genetics, Franche-Comté University, Besançon, France
13Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands
14Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Canada
15Institute of Medical Sciences, University of Toronto, The Hospital for Sick Children, Toronto, Canada

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Tài liệu tham khảo

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Van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S et al (2013) Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet 50(7):463–472. https://doi.org/10.1136/jmedgenet-2013-101658

Van de Kamp JM, Mancini GM, Salomons GS (2014) X-linked creatine transporter deficiency: clinical aspects and pathophysiology. J Inherit Metab Dis 37(5):715–733. https://doi.org/10.1007/s10545-014-9713-8

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