Recognizing early <scp>MRI</scp> signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy-Reference-Cited by-同舟云学术

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Published:2022-11-05 Issue:12 Volume:9 Page:1999-2009
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Schoenmakers Daphne H.¹²³^ORCID,Beerepoot Shanice¹²⁴⁵^ORCID,Krägeloh‐Mann Ingeborg⁶,Elgün Saskia⁶,Bender Benjamin⁷,van der Knaap Marjo S.¹²⁸,Wolf Nicole I.¹²^ORCID,Groeschel Samuel⁶

Affiliation:

1. Department of Child Neurology, Amsterdam Leukodystrophy Center Amsterdam UMC location Vrije Universiteit Amsterdam, Emma's Children's Hospital Boelelaan 1117 Amsterdam The Netherlands

2. Amsterdam Neuroscience, Cellular & Molecular Mechanisms Amsterdam The Netherlands

3. Department of Endocrinology and Metabolism Amsterdam UMC location University of Amsterdam Meibergdreef 9 Amsterdam The Netherlands

4. Center for Translational Immunology University Medical Center Utrecht Utrecht The Netherlands

5. Pediatric Transplant Center Princess Máxima Center for Pediatric Oncology Utrecht The Netherlands

6. Department of Child Neurology and Developmental Medicine University Children's Hospital Tübingen Hoppe‐Seyler‐Straße 1 72076 Tübingen Germany

7. Diagnostic and Interventional Neuroradiology, Department of Radiology University Hospital Tübingen Hoppe‐Seyler‐Straße 3 72076 Tübingen Germany

8. Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research Vrije Universiteit Amsterdam Amsterdam The Netherlands

Funder

DFG

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51692

Reference38 articles.

1. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

2. Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy

3. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

4. Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients

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