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Article

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.

Clinical genetics - 1 Aug 2017

Gigante M, Diella S, Santangelo L, Trevisson E, Acosta M J, Amatruda M, Finzi G, Caridi G, Murer L, Accetturo M, Ranieri E, Ghiggeri G M, Giordano M, Grandaliano G, Salviati L, Gesualdo L

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Identifiers

PMID: 28044327
DOI: 10.1111/cge.12960

Genes

COQ2
COQ6

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Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.PMID 28044327Read ↗

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.Semantic proximity Read ↗

The genetics of steroid-resistant nephrotic syndrome in childrenSemantic proximity Read ↗

[Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review].Semantic proximity Read ↗

Glomerular basement membrane ultrastructural changes in a patient with COQ2 glomerulopathy: A case report.Semantic proximity Read ↗

A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.Semantic proximity Read ↗

COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.Semantic proximity Read ↗

A Case Report of a Patient with COQ8B Nephropathy Manifesting Atypical Renal Pathological Changes.Semantic proximity Read ↗

Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.Semantic proximity Read ↗

A new era for steroid-resistant nephrotic syndrome in childhood.Semantic proximity Read ↗

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Semantic proximity Read ↗

Encephalopathy, kidney failure and retinopathy. CoQ10 deficiency due to COQ8B mutation.Semantic proximity Read ↗

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