Novel <scp>cerebrospinal fluid</scp> biomarkers of <scp>glucose transporter type 1</scp> deficiency syndrome: Implications beyond the brain's energy deficit-Reference-Cited by-同舟云学术

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

Published:2022-10-17 Issue:1 Volume:46 Page:66-75
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Peters Tessa M. A.¹²^ORCID,Merx Jona³^ORCID,Kooijman Pieter C.⁴^ORCID,Noga Marek²^ORCID,de Boer Siebolt²,van Gemert Loes A.⁵^ORCID,Salden Guido¹²,Engelke Udo F. H.²^ORCID,Lefeber Dirk J.¹²^ORCID,van Outersterp Rianne E.⁴^ORCID,Berden Giel⁴^ORCID,Boltje Thomas J.³^ORCID,Artuch Rafael⁶^ORCID,Pías‐Peleteiro Leticia⁶,García‐Cazorla Ángeles⁶,Barić Ivo⁷,Thöny Beat⁸^ORCID,Oomens Jos⁴^ORCID,Martens Jonathan⁴^ORCID,Wevers Ron A.²^ORCID,Verbeek Marcel M.¹²^ORCID,Coene Karlien L. M.²⁹^ORCID,Willemsen Michèl A. A. P.⁵^ORCID

Affiliation:

1. Department of Neurology Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center Nijmegen The Netherlands

2. Department of Laboratory Medicine Translational Metabolic Laboratory (TML), Radboud University Medical Center Nijmegen The Netherlands

3. Institute for Molecules and Materials Synthetic Organic Chemistry, Radboud University Nijmegen The Netherlands

4. Institute for Molecules and Materials, FELIX Laboratory Radboud University Nijmegen The Netherlands

5. Amalia Children's Hospital, Department of Pediatric Neurology & Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands

6. Clinical Biochemistry Department Institut de Recerca Sant Joan de Déu, CIBERER and MetabERN Hospital Sant Joan de Déu Barcelona Spain

7. Department of Pediatrics University Hospital Center Zagreb & University of Zagreb, School of Medicine Zagreb Croatia

8. Division of Metabolism University Children's Hospital Zürich Zürich Switzerland

9. Laboratory of Clinical Chemistry and Hematology Elisabeth TweeSteden Hospital Tilburg The Netherlands

Funder

Glut1 Deficiency Foundation

Nederlandse Organisatie voor Toegepast Natuurwetenschappelijk Onderzoek

Stichting Metakids

Stichting Stofwisselkracht

Radboud Universiteit

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12554

Reference31 articles.

1. Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

2. Glucose transporter proteins in brain: Delivery of glucose to neurons and glia

3. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

4. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

5. Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome

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