COQ2 nephropathy: a treatable cause of nephrotic syndrome in children
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Background
Nephrotic syndrome can be caused by a subgroup of mitochondrial diseases classified as primary coenzyme Q
10
(CoQ
10
) deficiency. Pathogenic
COQ2
variants are a cause of primary CoQ
10
deficiency and present with phenotypes ranging from isolated nephrotic syndrome to fatal multisystem disease.
Case-Diagnosi...
Alternative Titles
Full title
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5990461
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5990461
Other Identifiers
ISSN
0931-041X
E-ISSN
1432-198X
DOI
10.1007/s00467-018-3937-z
