Isolated neurological presentations of mevalonate kinase deficiency-Reference-Cited by-同舟云学术

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Isolated neurological presentations of mevalonate kinase deficiency

Published:2022-11-18 Issue:1 Volume:64 Page:53-56
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Hoytema van Konijnenburg Eva M. M.¹^ORCID,Oussoren Esmeralda²,Frenkel Joost³,van Hasselt Peter M.¹

Affiliation:

1. Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands

2. Department of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam the Netherlands

3. Department of Pediatrics, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht the Netherlands

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12348

Reference19 articles.

1. Mevalonate kinase deficiency: current perspectives

2. Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review

3. Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

4. Neurological manifestations in mevalonate kinase deficiency: A systematic review

5. Mevalonate kinase deficiency: Evidence for a phenotypic continuum

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings;Cureus;2024-07-23

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