Evidence map›Paper›PMID 38275615›Full record

ArticleGenes2024

Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.

Sandro Santa Paola, Francesco Domenico Di Blasi, Eugenia Borgione, Mariangela Lo Giudice, Marika Giuliano, Rosa Pettinato, Vincenzo Di Stefano, Filippo Brighina, Antonino Lupica, Carmela Scuderi

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.8field-weighted citation impact, top 31% 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

3 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
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

10 authors at 2 institutions in 1 country.

Sandro Santa PaolaUnit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy.ORCID 0000-0002-3310-782X
Francesco Domenico Di BlasiUnit of Psychology, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy.ORCID 0000-0002-2958-2927
Eugenia BorgioneUnit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy.ORCID 0000-0001-5458-7415
Mariangela Lo GiudiceUnit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy.ORCID 0000-0001-5961-0362
Marika GiulianoUnit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy.ORCID 0000-0002-5083-1174
Rosa PettinatoUnit of Pediatrics and Medical Genetics, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy.
Vincenzo Di StefanoDepartment of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, Via del Vespro, 143, 90127 Palermo, Italy.ORCID 0000-0001-9805-1655
Filippo BrighinaDepartment of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, Via del Vespro, 143, 90127 Palermo, Italy.ORCID 0000-0001-5875-3126
Antonino LupicaDepartment of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, Via del Vespro, 143, 90127 Palermo, Italy.ORCID 0000-0003-1499-9460
Carmela ScuderiUnit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy.
Oasi Maria SS · ITUniversity of Palermo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare autosomal recessive neurometabolic disorder caused by AADC deficiency, an enzyme encoded by the

Indexed as

Amino Acid Metabolism, Inborn ErrorsAutism Spectrum DisorderNervous System DiseasesAromatic-L-Amino-Acid DecarboxylasesGenetic TestingHumansInfant, NewbornAromatic-L-Amino-Acid DecarboxylasesAADCDaromatic L-amino acid decarboxylase deficiencycognitive deficitneuromuscular defectSicily

Identifiers

PMID38275615
PMCPMC10815063
OpenAlexW4391106123

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.