Evidence map›Paper›PMID 35769135›Full record

ArticleMolecular genetics and metabolism reports2022

Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.

Gabriel Civallero, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M Herbst, Camilo Silva, Franciele B Trapp, Edina Poletto, Larissa Faqueti, Gabrielle Iop and 5 more

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

Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.8field-weighted citation impact, top 30% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 5 institutions in 2 countries.

Gabriel CivalleroBioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Francyne KubaskiBioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Danilo PereiraWaters Technologies Brazil, São Paulo, Brazil.
Gabriel RübensamCentro de Pesquisa em Toxicologia e Farmacologia, PUC, Porto Alegre, Brazil.
Zackary M HerbstDepartment of Chemistry, University of Washington, Seattle, USA.
Camilo SilvaWaters Technologies Brazil, São Paulo, Brazil.
Franciele B TrappBioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Edina PolettoBioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Larissa FaquetiBioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Gabrielle IopBioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Juliano SoaresBioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Vanessa van der LindenCentro de Reabilitação Dr Henrique Santillo, Goiania, Brazil.
Helio van der LindenCentro de Reabilitação Dr Henrique Santillo, Goiania, Brazil.
Charles M LourençoCentro Universitario Estacio, Ribeirão Preto, Brazil.
Roberto GiuglianiBioDiscovery Laboratory and Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Hospital de Clínicas de Porto Alegre · BRInnovatech (Brazil) · BRPontifícia Universidade Católica do Rio Grande do Sul · BRSeattle University · USUniversidade Federal do Rio Grande do Sul · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aromatic l-amino acid decarboxylase (AADC, EC 4.1.1.28) deficiency is a rare genetic disorder characterized by developmental delay, oculogyric crises, autonomic dysfunction and other problems, caused by biallelic mutations in the

Indexed as

3-OMD, 3-O-methyldopa;3-ortho-methyl-dopa (3-OMD)AADC, Aromatic l-amino acid decarboxylaseAADCD, Aromatic l-amino acid decarboxylase deficiency;AADC deficiencyAromatic l-amino acid decarboxylase (AADC)DBS, dried blood spots;DDC geneDopamineLC-MS/MS, Liquid chromatography tandem mass spectrometry;MRM, multiple reaction monitoring;Tandem mass spectrometry

Identifiers

PMID35769135
PMCPMC9234702
OpenAlexW4283264828

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.