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Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Vals, Mari-Anne; Ashikov, Angel; Ilves, Pilvi; Loorits, Dagmar; Zeng, Qiang; Barone, Rita; Huijben, Karin; Sykut-Cegielska, Jolanta; Diogo, Luísa; Elias, Abdallah F; Greenwood, Robert S; Grunewald, Stephanie; van Hasselt, Peter M; van de Kamp, Jiddeke M; Mancini, Grazia; Okninska, Agnieszka; Pajusalu, Sander; Rudd, Pauline M; Rustad, Cecilie F; Salvarinova, Ramona; de Vries, Bert B A; Wolf, Nicole I; Ng, Bobby G; Freeze, Hudson H; Lefeber, Dirk J; Õunap, Katrin.
Afiliação
  • Vals MA; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Ashikov A; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Ilves P; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
  • Loorits D; Donders Institute for Brain, Cognition, and Behavior, Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Zeng Q; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.
  • Barone R; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Huijben K; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.
  • Sykut-Cegielska J; Department of Radiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Diogo L; GlycoScience Group, National Institute for Bioprocessing Research & Training, Dublin, Ireland.
  • Elias AF; Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Greenwood RS; Department of Clinical and Experimental Medicine, Referral Centre for Inherited Metabolic Diseases, University of Catania, Catania, Italy.
  • Grunewald S; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Hasselt PM; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.
  • van de Kamp JM; Child Developmental Center, Hospital Pediátrico, Center for Inherited Metabolic Diseases, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Mancini G; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.
  • Okninska A; Department of Neurology, University of North Carolina School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
  • Pajusalu S; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK.
  • Rudd PM; Division Pediatrics, Metabolic Diseases, Wilhelmina Children's Hospital (Part of UMC Utrecht), Utrecht, The Netherlands.
  • Rustad CF; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
  • Salvarinova R; Department of Clinical Genetics, Erasmus MC University Medical Centre, Rotterdam, The Netherlands.
  • de Vries BBA; Clinic of Children and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.
  • Wolf NI; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Ng BG; GlycoScience Group, National Institute for Bioprocessing Research & Training, Dublin, Ireland.
  • Freeze HH; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Lefeber DJ; Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital, UBC BC Children's Hospital Research Institute, Vancouver, Canada.
  • Õunap K; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
J Inherit Metab Dis ; 42(3): 553-564, 2019 05.
Article em En | MEDLINE | ID: mdl-30746764
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Encefalopatias / Proteínas de Transporte de Monossacarídeos / Defeitos Congênitos da Glicosilação Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estônia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Encefalopatias / Proteínas de Transporte de Monossacarídeos / Defeitos Congênitos da Glicosilação Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estônia