Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria-Reference-Cited by-同舟云学术

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

Published:2021-06-28 Issue:5 Volume:44 Page:1272-1287
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Brennenstuhl Heiko¹^ORCID,Nashawi Mohammed¹²,Schröter Julian³,Baronio Federico⁴,Beedgen Lars¹,Gleich Florian¹,Jeltsch Kathrin¹,Landenberg Christina⁵,Martini Silvia⁶,Simon Anna⁷,Thiel Christian¹,Tsiakas Konstantinos⁸,Opladen Thomas¹,Kölker Stefan¹,Hoffmann Georg F.¹,Haas Dorothea¹^ORCID,

Affiliation:

1. Division of Neuropaediatrics and Paediatric Metabolic Medicine Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg Heidelberg Germany

2. Department of Pediatrics King Abdulaziz University Jeddah Saudi Arabia

3. Division of Pediatric Epileptology Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg Heidelberg Germany

4. Paediatric Unit, Department of Medical and Surgical Sciences S. Orsola‐Malpighi University Hospital Bologna Italy

5. Department of Neurology University Hospital Bonn Bonn Germany

6. Neonatal Intensive Care Unit, Department of Medical and Surgical Sciences S. Orsola‐Malpighi University Hospital Bologna Italy

7. Department of Internal Medicine Radboudumc Expertise Centre for Immunodeficiency and Autoinflammation (REIA), Radboud University Medical Center Nijmegen The Netherlands

8. Department of Pediatrics University Medical Center Hamburg‐Eppendorf Hamburg Germany

Funder

European Commission

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12412

Reference55 articles.

1. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

2. Inherited Disorders of Cholesterol Biosynthesis