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Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

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Title: Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
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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  Data: Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
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  Data: <searchLink fieldCode="AU" term="%22Vals+MA%22">Vals MA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ashikov+A%22">Ashikov A</searchLink>; Donders Institute for Brain, Cognition, and Behavior, Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ilves+P%22">Ilves P</searchLink>; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Loorits+D%22">Loorits D</searchLink>; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Zeng+Q%22">Zeng Q</searchLink>; GlycoScience Group, National Institute for Bioprocessing Research & Training, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Barone+R%22">Barone R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Huijben+K%22">Huijben K</searchLink>; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sykut-Cegielska+J%22">Sykut-Cegielska J</searchLink>; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Diogo+L%22">Diogo L</searchLink>; Child Developmental Center, Hospital Pediátrico, Center for Inherited Metabolic Diseases, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Elias+AF%22">Elias AF</searchLink>; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.<br /><searchLink fieldCode="AU" term="%22Greenwood+RS%22">Greenwood RS</searchLink>; Department of Neurology, University of North Carolina School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.<br /><searchLink fieldCode="AU" term="%22Grunewald+S%22">Grunewald S</searchLink>; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22van+Hasselt+PM%22">van Hasselt PM</searchLink>; Division Pediatrics, Metabolic Diseases, Wilhelmina Children's Hospital (Part of UMC Utrecht), Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Kamp+JM%22">van de Kamp JM</searchLink>; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mancini+G%22">Mancini G</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Centre, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Okninska+A%22">Okninska A</searchLink>; Clinic of Children and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Pajusalu+S%22">Pajusalu S</searchLink>; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Rudd+PM%22">Rudd PM</searchLink>; GlycoScience Group, National Institute for Bioprocessing Research & Training, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Rustad+CF%22">Rustad CF</searchLink>; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Salvarinova+R%22">Salvarinova R</searchLink>; Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital, UBC BC Children's Hospital Research Institute, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wolf+NI%22">Wolf NI</searchLink>; Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ng+BG%22">Ng BG</searchLink>; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.<br /><searchLink fieldCode="AU" term="%22Freeze+HH%22">Freeze HH</searchLink>; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.<br /><searchLink fieldCode="AU" term="%22Lefeber+DJ%22">Lefeber DJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Õunap+K%22">Õunap K</searchLink>; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
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