Discover Community Create You

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

[Analysis of child with pyruvate carboxylase deficiency type A due to compound heterozygous variants of the PC gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2022

Zhao Xiaoling, Ding Jie, Jin Danqun

Abstract excerpt

OBJECTIVE: To analyze the clinical features and genetic basis for a child with pyruvate carboxylase deficiency type A (PCD-A). METHODS: Clinical data of the child was retrospectively analyzed. The child and his parents were subjected to trio-whole exome sequencing, and candidate variants were verified by bioinformatics analysis. RESULTS: The child was admitted due to fever with vomiting and disturbance of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family

Share to Mutation

Source

Identifiers

PMID: 36082573
DOI: 10.3760/cma.j.cn511374-20210719-00606

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of child with pyruvate carboxylase deficiency type A due to compound heterozygous variants of the PC gene].PMID 36082573Read ↗

The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.Semantic proximity Read ↗

Clinical outcome and genotype analysis of 4 Chinese children with pyruvate kinase deficiencySemantic proximity Read ↗

A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of a child with autosomal recessive polycystic kidney disease].Semantic proximity Read ↗

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.Semantic proximity Read ↗

[Clinical features and genetic variants of a case with carnitine palmitoyltransferase 1A deficiency].Semantic proximity Read ↗

[A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing].Semantic proximity Read ↗

[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].Semantic proximity Read ↗

[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency].Semantic proximity Read ↗

Red blood cell PK deficiency: An update of PK-LR gene mutation database.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line (SHCDNi007-A) from a patient with pyruvate carboxylase deficiency carrying compound heterozygous (c.182 T > C/ c.2581G > A) variants in PC.Semantic proximity Read ↗

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.Semantic proximity Read ↗

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