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

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.

Journal of inherited metabolic disease - 1 Jan 1994

Pérez B, Desviat L R, García M J, Ugarte M

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 Genotype
Share to Haplotypes
Share to Infant, Newborn
Share to Oligonucleotide Probes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenylalanine

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Source

Identifiers

PMID: 7807962
DOI: 10.1007/BF00711839

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families.PMID 7807962Read ↗

Phenotype distribution in the Spanish phenylketonuria population and related genotypes.Semantic proximity Read ↗

Pathogenesis of different clinical outcomes in spite of identical genotypes and comparable blood phenylalanine concentrations in phenylketonurics.Semantic proximity Read ↗

Heterogeneity of phenylketonuria in Belgium at the genotype-phenotype level.Semantic proximity Read ↗

Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.Semantic proximity Read ↗

Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.Semantic proximity Read ↗

Phenylketonuria - genetic, clinical and therapeutic aspectsSemantic proximity Read ↗

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.Semantic proximity Read ↗

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.Semantic proximity Read ↗

Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34.Semantic proximity Read ↗

[Correlations between genotype and phenotype in children with phenylketonuria?].Semantic proximity Read ↗

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.Semantic proximity Read ↗

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.Semantic proximity Read ↗

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