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

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.

Prenatal diagnosis - 1 Aug 1999

Kure S, Rolland M O, Leisti J, Mandel H, Sakata Y, Tada K, Matsubara Y, Narisawa K

Abstract excerpt

Prenatal diagnosis for non-ketotic hyperglycinaemia (NKH) was performed by enzymatic analysis of chorionic villus samples in 28 families and by DNA analysis in two families. In 26 families, enzymatic analysis of the glycine cleavage multi-enzyme system (GCS) yielded an unambiguous diagnosis; inconclusive results in two families were due to borderline GCS activity. We analysed a second chorionic sample in these...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Oxidoreductases
Share to Arabs

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chorionic Villi Sampling

Share to Glycine

Share to Israel

Share to Multienzyme Complexes

Share to Pregnancy Outcome

Share to Transferases

Source

Identifiers

PMID: 10451514
DOI: 10.1002/(sici)1097-0223(199908)19:8<717::aid-pd625>3.0.co;2-l

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 · 11 closest

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.PMID 10451514Read ↗

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.Semantic proximity Read ↗

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.Semantic proximity Read ↗

Prenatal diagnosis of nonketotic hyperglycinemia: Enzymatic analysis of the glycine cleavage system in chorionic villiSemantic proximity Read ↗

Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.Semantic proximity Read ↗

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

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.Semantic proximity Read ↗

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disordersSemantic proximity Read ↗

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.Semantic proximity Read ↗

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).Semantic proximity Read ↗

First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.Semantic proximity Read ↗

Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.Semantic proximity Read ↗

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