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

International database of tetrahydrobiopterin deficiencies

26 Oct 1995

Abstract excerpt

Approximately 2% of newborns with hyperphenylalaninaemia are deficient in tetrahydrobiopterin. Selective screening must be performed in all instances where hyperphenylalaninaemia is detected by neonatal screening. In the last 20 years, 308 patients with tetrahydrobiopterin deficiencies have been recognized as a result of screening carried out, worldwide, in Departments of Paediatrics. Of these 308 patients, 181...

Read the complete abstract on PubMed

Topics

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

Share to Hyperglycemia and glycemic control in critically ill and hospitalized patients
Share to Metabolism and Genetic Disorders
Share to Neonatal Health and Biochemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8830181
DOI: 10.1007/bf01799342

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

International database of tetrahydrobiopterin deficienciesPMID 8830181Read ↗

Disorders of Tetrahydrobiopterin Metabolism: Experience from South IndiaSemantic proximity Read ↗

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.Semantic proximity Read ↗

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.Semantic proximity Read ↗

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.Semantic proximity Read ↗

BH4-deficient hyperphenylalaninemia in Russia.Semantic proximity Read ↗

Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.Semantic proximity Read ↗

Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.Semantic proximity Read ↗

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.Semantic proximity Read ↗

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.Semantic proximity Read ↗

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.Semantic proximity Read ↗

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

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