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

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.

BMC medical genetics - 5 Jan 2018

Lin Yiming, Zheng Zhenzhu, Sun Wenjia, Fu Qingliu

Abstract excerpt

BACKGROUND: Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients. This study aimed to identify the genetic mutations in a Chinese family with NKH. METHODS: A Chinese family of Han ethnicity, with three siblings with NKH was studied. Sanger sequencing 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 Exons
Share to Glycine

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

Share to Heterozygote

Share to Infant, Newborn

Share to Mutation, Missense

Share to Sequence Deletion

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 29304759
DOI: 10.1186/s12881-017-0517-1
PMCID: PMC5755286

Genes

GLDC
AMT
GCSH

Variants

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

A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.PMID 29304759Read ↗

[Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].Semantic proximity Read ↗

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.Semantic proximity Read ↗

Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.Semantic proximity Read ↗

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.Semantic proximity Read ↗

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.Semantic proximity Read ↗

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.Semantic proximity Read ↗

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Semantic proximity Read ↗

A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.Semantic proximity Read ↗

Nonketotic Hyperglycinemia of Infants in Taiwan.Semantic proximity Read ↗

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.Semantic proximity Read ↗

Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.Semantic proximity Read ↗

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.Semantic proximity Read ↗

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