Is the brain involved in patients with late‐onset Pompe disease?-Reference-Cited by-同舟云学术

Is the brain involved in patients with late‐onset Pompe disease?

Published:2022-01-25 Issue: Volume: Page:
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Dorpel Jan J. A.¹^ORCID,Vlugt Willemijn M. C.²,Dremmen Marjolein H. G.³,Muetzel Ryan⁴,Berg Esther²,Hest Roos²,Kriek Joni²,Brusse Esther⁵,Doorn Pieter A.⁵,Ploeg Ans T.¹,Hout Johanna M. P.¹,Beek Nadine A. M. E.⁵

Affiliation:

1. Department of Pediatrics Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases Rotterdam The Netherlands

2. Department of Neurology Erasmus MC, University Medical Center Rotterdam Rotterdam The Netherlands

3. Department of Radiology Erasmus MC, University Medical Center Rotterdam Rotterdam The Netherlands

4. Department of Child and Adolescent Psychiatry/Psychology Erasmus MC, University Medical Center Rotterdam Rotterdam The Netherlands

5. Department of Neurology Erasmus MC, University Medical Center Rotterdam, Center for Lysosomal and Metabolic Diseases Rotterdam The Netherlands

Funder

Stichting Metakids

Prinses Beatrix Spierfonds

ZonMw

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12469

Reference31 articles.

1. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

2. The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature

3. Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain

4. Novel approaches to quantify CNS involvement in children with Pompe disease

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1. Health-Related Quality of Life and Fatigue in Children with Pompe Disease;The Journal of Pediatrics: Clinical Practice;2024-12

2. Molecular basis of neurocognitive dysfunction and psychosis in Alpha-Mannosidosis;Journal of Translational Genetics and Genomics;2024-03-20

3. Diffusion tensor imaging of the brain in Pompe disease;Journal of Neurology;2022-12-08