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

[What should the paediatrician know about hyperphenylalaninaemia?].

Revista chilena de pediatria - 1 Jan 2000

Bravo Paulina, Raimann Erna, Cabello Juan Francisco, Arias Carolina, Peredo Pilar, Castro Gabriela, Hamilton Valerie, Campo Karen, Cornejo Verónica

Abstract excerpt

Hyperphenylalaninaemias are defined by a blood phenylalanine over 2mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild hyperphenylalaninaemias, or mild, moderate or classic phenylketonurias. Due to its delayed detection outside the...

Read the complete abstract on PubMed

Topics

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

Share to Chile
Share to Delayed Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neonatal Screening

Share to Pediatrics

Share to Phenylalanine

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Tyrosine

Source

Identifiers

PMID: 26363863
DOI: 10.1016/j.rchipe.2015.06.006

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

[What should the paediatrician know about hyperphenylalaninaemia?].PMID 26363863Read ↗

Prevalence of Phenylketonuria in neonates of Mashhad, Iran: A cross-sectional studySemantic proximity Read ↗

[Knowledge about genotype-phenotype of the diseases should be coming into pediatrician's horizon].Semantic proximity Read ↗

Past, present and future of newborn screening in Chile.Semantic proximity Read ↗

The Relationship Between Serum Phenylalanine Levels, Genotype, and Developmental Assessment Test Results in Non-Phenylketonuria Mild Hyperphenylalaninemia PatientsSemantic proximity Read ↗

Guide for diagnosis and treatment of hyperphenylalaninemia.Semantic proximity Read ↗

Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature ReviewSemantic proximity Read ↗

[Current approaches to assessing the hereditary anamnesis in young infants].Semantic proximity Read ↗

The relationship between serum phenylalanine levels, genotype, and developmental assessment test results in non-phenylketonuria mild hyperphenylalaninemia patients.Semantic proximity Read ↗

The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of MalaysiaSemantic proximity Read ↗

What we know that could influence future treatment of phenylketonuria.Semantic proximity Read ↗

Clinical inquiries. When should we screen children for hyperlipidemia?Semantic proximity Read ↗

Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening programSemantic proximity Read ↗

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