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

[A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2020

Zhu Lisha, Li Guinan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese neonate with lipoprotein lipase deficiency. METHODS: Targeted capture and next-generation sequencing (NGS) were carried out to detect variants of genes associated with inborn errors of metabolism. Suspected variants were validated by Sanger sequencing. RESULTS: Genetic testing revealed novel complex heterozygous variants, namely c.347G>C (p.Arg116Pro) and...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Hyperlipoproteinemia Type I

Share to Infant, Newborn

Share to Lipoprotein Lipase

Share to Mutation

Source

Identifiers

PMID: 32034744
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene].PMID 32034744Read ↗

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.Semantic proximity Read ↗

A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.Semantic proximity Read ↗

Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature.Semantic proximity Read ↗

Neonatal hyperlipidemia with pancreatitis: Novel gene mutation of lipoprotein lipase.Semantic proximity Read ↗

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.Semantic proximity Read ↗

[Lipoprotein lipase: a multifunctional enzyme in lipoprotein metabolism].Semantic proximity Read ↗

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.Semantic proximity Read ↗

[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].Semantic proximity Read ↗

[Molecular genetics and lipoprotein lipase deficiency].Semantic proximity Read ↗

[Analysis of ACADVL gene variant in a Chinese pedigree affected with Very-long-chain acl-CoA dehydrogenase deficiency].Semantic proximity Read ↗

[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene].Semantic proximity Read ↗

[Primary lipoprotein lipase deficiency: clinical and genetic aspects].Semantic proximity Read ↗

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