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Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease
Authors:Würde A E  Reunert J  Rust S  Hertzberg C  Haverkämper S  Nürnberg G  Nürnberg P  Lehle L  Rossi R  Marquardt T
Institution:1. Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark;2. Center for Human Nutrition, University of Texas Southwestern Medical Center, USA;3. Department of Neurology & Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA;4. Neuromuscular Center, Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital, Dallas, USA;5. Department of Pediatrics, Division of Child and Adolescent Neurology, UTHealth at McGovern Medical School, Houston, TX, USA;6. Department of Inflammation Research, Rigshospitalet, Copenhagen, Denmark;7. North Texas VA Health Care System, Dallas, TX, USA;1. Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands;2. Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark;3. Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands;4. Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands;5. Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands;6. Department of Rehabilitation, Radboud University Medical Centre, Nijmegen, The Netherlands;7. Rehabilitation Centre de Vogellanden, Zwolle, The Netherlands
Abstract:
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