Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Sept 2018

Xu K, Mao X Y, Yao Y, Cheng H, Zhang X J

Abstract excerpt

Objective: To explore the clinical and genetic characteristics of infantile nephrotic syndrome caused by COQ2 variants. Methods: The clinical and genetic data of a patient with nephrotic syndrome caused by COQ2 variants diagnosed at pediatric department of Peking University First Hospital from February 2018 to March 2018 were retrospectively analyzed. Related literature retrieved from PubMed, CNKI and Wanfang...

Topics

Join the communities discussing this publication.

Alkyl and Aryl Transferases
Ataxia
Infant
Mitochondrial Diseases
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nephrotic Syndrome

Source

Identifiers

PMID: 30180404
DOI: 10.3760/cma.j.issn.0578-1310.2018.09.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review].PMID 30180404Read ↗

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 ↗

[Coenzyme Q(10) treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature review].Semantic proximity Read ↗

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

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

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

A novel mutation in COQ2 leading to fatal infantile multisystem disease.Semantic proximity Read ↗

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

Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.Semantic proximity Read ↗

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.Semantic proximity Read ↗

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).Semantic proximity Read ↗

A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.