Evidence map›Paper›PMID 31973013›Full record

ArticleJournal of personalized medicine2020

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.

Laith N Al-Eitan, Kifah Alqa'qa', Wajdi Amayreh, Rame Khasawneh, Hanan Aljamal, Mamoon Al-Abed, Yazan Haddad, Tamara Rawashdeh, Zaher Jaradat, Hazem Haddad

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

Article in Journal of personalized medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.7field-weighted citation impact, top 37% 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

1 citing paper in PubMed, 12 citations in OpenAlex.

  1. 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 3 institutions in 2 countries.

Laith N Al-EitanDepartment of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.
Kifah Alqa'qa'Department of Pediatrics, Jordan University of Science and Technology, Irbid 22110, Jordan.
Wajdi AmayrehDepartment of Pediatrics, Metabolic Genetics Clinic, Queen Rania Al-Abdullah Children's Hospital, King Hussein Medical Centre, Amman 11855, Jordan.
Rame KhasawnehDepartment of Pathology, Division of Molecular Genetic Pathology, King Hussein, Medical Center, Amman 11855, Jordan.
Hanan AljamalDepartment of Applied Biological Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan.
Mamoon Al-AbedPrincess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.
Yazan HaddadDepartment of Chemistry and Biochemistry, Mendel University in Brno, Zemedelska, 61300 Brno, Czech Republic.
Tamara RawashdehPrincess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.
Zaher JaradatPrincess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.
Hazem HaddadPrincess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.
Jordan University of Science and Technology · JOKing Hussein Medical Center · JOCentral European Institute of Technology · CZ

Funding

Jordan University of Science and Technology 112/2015
6 · The paper itself

Abstract

Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (

Indexed as

biotinidase deficiencyBTDenzyme assayfamilial studygeneticsJordan

Identifiers

PMID31973013
PMCPMC7151559
OpenAlexW3001557803

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.