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 known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia.

Neuropediatrics - 1 Jun 2012

Beijer P, Lichtenbelt K D, Hofstede F C, Nikkels P G J, Lemmers P, de Vries L S

Abstract excerpt

A term neonate displayed typical features of nonketotic hyperglycinemia (NKH). Conventional magnetic resonance imaging showed corpus callosum hypoplasia and increased signal intensity of the white matter. Magnetic resonance proton spectroscopy revealed high cerebral glycine levels. The liquor/plasma glycine ratio was increased. Genetic testing detected a known and a novel mutation in the glycine decarboxylase...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Fatal Outcome
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Source

Identifiers

PMID: 22610665
DOI: 10.1055/s-0032-1313914

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A known and a novel mutation in the glycine decarboxylase gene in a newborn with classic nonketotic hyperglycinemia.PMID 22610665Read ↗

Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.Semantic proximity Read ↗

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

Nonketotic Hyperglycinemia: Two Case Reports and ReviewSemantic proximity Read ↗

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.Semantic proximity Read ↗

Variant Nonketotic Hyperglycinemia Presenting with Elevated Lactate and Pyruvate: A Diagnostic and Management ChallengeSemantic proximity Read ↗

A novel glycine decarboxylase gene mutation in an Indian family with 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 ↗

Two novel missense mutations 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 ↗

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

Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.Semantic proximity Read ↗

Nonketotic Hyperglycinemia of Infants in Taiwan.Semantic proximity Read ↗

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