Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
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| Title: | Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients. |
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| Authors: | Vals MA; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Ashikov A; Donders Institute for Brain, Cognition, and Behavior, Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Ilves P; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Loorits D; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Zeng Q; GlycoScience Group, National Institute for Bioprocessing Research & Training, Dublin, Ireland., Barone R; Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Department of Clinical and Experimental Medicine, Referral Centre for Inherited Metabolic Diseases, University of Catania, Catania, Italy., Huijben K; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland., Diogo L; Child Developmental Center, Hospital Pediátrico, Center for Inherited Metabolic Diseases, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana., Greenwood RS; Department of Neurology, University of North Carolina School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Grunewald S; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK., van Hasselt PM; Division Pediatrics, Metabolic Diseases, Wilhelmina Children's Hospital (Part of UMC Utrecht), Utrecht, The Netherlands., van de Kamp JM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Mancini G; Department of Clinical Genetics, Erasmus MC University Medical Centre, Rotterdam, The Netherlands., Okninska A; Clinic of Children and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Rudd PM; GlycoScience Group, National Institute for Bioprocessing Research & Training, Dublin, Ireland., Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Salvarinova R; Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital, UBC BC Children's Hospital Research Institute, Vancouver, Canada., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Wolf NI; Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands., Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California., Lefeber DJ; Donders Institute for Brain, Cognition, and Behavior, Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. |
| Corporate Authors: | EPGEN Study; Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, Canada. |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 May; Vol. 42 (3), pp. 553-564. Date of Electronic Publication: 2019 Feb 11. |
| Publication Type: | Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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