Evidence map›Paper›PMID 38136067›Full record

ArticleChildren (Basel, Switzerland)2023

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.

Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-Del Angel, Isabel Ibarra-González, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Cynthia Fernández-Lainez

Open access · goldAbstract read
In one paragraph

Article in Children (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 72% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 1 institution in 1 country.

Marcela Vela-AmievaLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México 04530, Mexico.
Miguel Angel Alcántara-OrtigozaLaboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México 04530, Mexico.ORCID 0000-0003-0592-8214
Ariadna González-Del AngelLaboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México 04530, Mexico.ORCID 0000-0002-7096-0969
Isabel Ibarra-GonzálezUnidad de Genética de la Nutrición, Instituto de Investigaciones Biomédicas UNAM, Ciudad de México 04510, Mexico.ORCID 0000-0001-8693-8531
Liliana Fernández-HernándezLaboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México 04530, Mexico.ORCID 0000-0002-4153-6966
Sara Guillén-LópezLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México 04530, Mexico.
Lizbeth López-MejíaLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México 04530, Mexico.ORCID 0000-0003-0058-8273
Cynthia Fernández-LainezLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México 04530, Mexico.
Secretaria de Salud · MX

Funding

Centro de Alta Especialidad en Genética Humana DNA-GEN S.C., Mexico City NAInsituto Nacional de Pediatría, Secretaría de Salud, Recursos Fiscales 2018-2023, 2020/014
6 · The paper itself

Abstract

Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH). Affected patients can experience severe and irreversible neurological impairments when phenylalanine (Phe) blood concentration exceeds 360 μmol/L (6 mg/dL). Here, we describe a female HPA patient who was born in Mexico to Cuban non-consanguineous parents and identified by newborn screening, and who bears the previously unreported

Indexed as

aminoacidopathiesamino acidsCuban PKU populationinborn errors of intermediary metabolismintellectual disabilityMexican PKU populationrare diseases

Identifiers

PMID38136067
PMCPMC10742057
OpenAlexW4389084624

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.