A fatal case of COQ7 ‐associated primary coenzyme Q 10 deficiency-Reference-Cited by-同舟云学术

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A fatal case of COQ7 ‐associated primary coenzyme Q 10 deficiency

Published:2019-04-03 Issue:1 Volume:47 Page:23-29
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Kwong Anna K.‐Y.¹,Chiu Annie T.‐G.¹,Tsang Mandy H.‐Y.¹,Lun Kin‐Shing¹,Rodenburg Richard J. T.²,Smeitink Jan²,Chung Brian H.‐Y.¹,Fung Cheuk‐Wing¹

Affiliation:

1. Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine Queen Mary Hospital, The University of Hong Kong Hong Kong SAR China

2. Radboud Centre for Mitochondrial Medicine, Department of Paediatrics, Radboud Institute for Molecular Life Sciences Radboud University Nijmegen Medical Centre Nijmegen The Netherlands

Funder

Joshua Hellmann Foundation for Orphan Disease

Society for the Relief of Disabled Children

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12032

Reference31 articles.

1. Biochemical, physiological and medical aspects of ubiquinone function

2. Role of the Isoprenyl Tail of Ubiquinone in Reaction with Respiratory Enzymes: Studies with Bovine Heart Mitochondrial Complex I and Escherichia coli bo-Type Ubiquinol Oxidase

3. Biochemistry of Mitochondrial Coenzyme Q Biosynthesis

4. Coenzyme Q biosynthesis in health and disease

5. A nuclear role for the respiratory enzyme CLK-1 in regulating mitochondrial stress responses and longevity

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1. Understanding coenzyme Q;Physiological Reviews;2024-10-01

2. COQ7 splice site variant causing a spastic paraparesis phenotype in siblings;Journal of Genetics;2024-07-10

3. New variants expand the neurological phenotype of COQ7 deficiency;Journal of Inherited Metabolic Disease;2024-07-08

4. Primary CoQ10 deficiency: treatable heterogeneous group of disorders;European Journal of Human Genetics;2024-07-03

5. COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction;European Journal of Human Genetics;2024-05-03

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