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

[Diagnosis of the mutation responsible for acute intermittent porphyria in a newborn].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jul 2011

Sanjuan Herranz G, Castejón Ponce E, López-Vílchez M A, Díaz-Ledo J, Herrero Mateu C, Vázquez Sánchez A, Mur Sierra A

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 Infant, Newborn
Share to Mutation
Share to Porphyria, Acute Intermittent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21420370
DOI: 10.1016/j.anpedi.2011.01.024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Diagnosis of the mutation responsible for acute intermittent porphyria in a newborn].PMID 21420370Read ↗

[Porphyria: from clinics to molecular genetics].Semantic proximity Read ↗

Hematologically important mutations: acute intermittent porphyria.Semantic proximity Read ↗

[The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia].Semantic proximity Read ↗

Diagnosis of latent acute intermittent porphyria by genetic analysis.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.Semantic proximity Read ↗

A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait.Semantic proximity Read ↗

[Acute intermittent porphyria (AIP)].Semantic proximity Read ↗

[DNA diagnosis of inherited metabolic diseases].Semantic proximity Read ↗

[Genetic diagnosis of pheochromocytoma].Semantic proximity Read ↗

[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].Semantic proximity Read ↗

[Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].Semantic proximity Read ↗

[Gene mutations in a newborn infant with hypermethioninemia].Semantic proximity Read ↗

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