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

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

Genetics and molecular research : GMR - 30 Jun 2007

Kedar P S, Nampoothiri S, Sreedhar S, Ghosh K, Shimizu K, Kanno H, Colah R B

Abstract excerpt

Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency w...

Read the complete abstract on PubMed

Topics

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

Share to Anemia, Hemolytic
Share to Anemia, Hemolytic, Congenital Nonspherocytic
Share to DNA Restriction Enzymes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Pregnancy Trimester, First

Share to Prenatal Diagnosis

Share to Pyruvate Kinase

Source

Identifiers

PMID: 17952871

Genes

PKLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17952871-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.PMID 17952871Read ↗

First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family.Semantic proximity Read ↗

Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.Semantic proximity Read ↗

[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].Semantic proximity Read ↗

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.Semantic proximity Read ↗

Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency.Semantic proximity Read ↗

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred - PK deficiency masquerading as Congenital Dyserythropoietic Anemia.Semantic proximity Read ↗

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

A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.Semantic proximity Read ↗

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.Semantic proximity Read ↗

A novel PKLR gene mutation identified using advanced molecular techniques.Semantic proximity Read ↗

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

Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.Semantic proximity Read ↗

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