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 mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice.

European journal of pediatrics - 1 Aug 2001

Cotton F, Bianchi P, Zanella A, Van Den Bogaert N, Ferster A, Hansen V, Van Herreweghe I, Vertongen F, Gulbis B

Abstract excerpt

No abstract is available from the source.

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 Erythrocytes
Share to Infant, Newborn
Share to Jaundice, Neonatal

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

Share to Mutation

Share to Pyruvate Kinase

Share to Respiratory Distress Syndrome, Newborn

Source

Identifiers

PMID: 11548197
DOI: 10.1007/pl00008456

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 mutation causing pyruvate kinase deficiency responsible for a severe neonatal respiratory distress syndrome and jaundice.PMID 11548197Read ↗

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

Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.Semantic proximity Read ↗

The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.Semantic proximity Read ↗

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

Molecular heterogeneity of pyruvate kinase deficiency.Semantic proximity Read ↗

Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant.Semantic proximity Read ↗

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.Semantic proximity Read ↗

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathySemantic proximity Read ↗

An atypical French form of pyruvate carboxylase deficiency.Semantic proximity Read ↗

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

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

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