Evidence map›Paper›PMID 30468149›Full record

ArticleJournal of clinical research in pediatric endocrinology2019

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the

Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert

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

Article in Journal of clinical research in pediatric endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 84% 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, 2 citations in OpenAlex.

  1. Review
  2. 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

6 authors at 3 institutions in 2 countries.

Bülent Hacıhamdioğluİstinye University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, TurkeyORCID 0000-0001-7070-6429
Gamze ÖzgürhanUniversity of Health Sciences, Süleymaniye Women Maternity and Child Diseases Training and Research Hospital, Clinic of Child Health and Diseases, İstanbul, TurkeyORCID 0000-0002-8063-1931
Catarina PereiraCentogene AG, Rostock, Germany
Emre TepeliUniversity of Health Sciences, Süleymaniye Women Maternity and Child Diseases Training and Research Hospital, Clinic of Child Health and Diseases, İstanbul, TurkeyORCID 0000-0003-3771-2741
Gülşen AcarUniversity of Health Sciences, Süleymaniye Women Maternity and Child Diseases Training and Research Hospital, Clinic of Child Health and Diseases, İstanbul, TurkeyORCID 0000-0001-6031-1757
Serdar CömertUniversity of Health Sciences, Süleymaniye Women Maternity and Child Diseases Training and Research Hospital, Clinic of Child Health and Diseases, İstanbul, TurkeyORCID 0000-0001-5843-3034
Zübeyde Hanim Maternity Hospital · TRCentogene (Germany) · DEIstinye University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypophosphatasia (HPP) is a rare disease caused by mutations in the

Indexed as

Enzyme Replacement TherapyGene DuplicationAlkaline PhosphataseFollow-Up StudiesHumansHypophosphatasiaInfant, NewbornMalePrognosisAlkaline PhosphataseALPL protein, humanALPL geneduplicationenzyme replacement therapyHypophosphatasiaperinatal form

Identifiers

PMID30468149
PMCPMC6745457
OpenAlexW2971780711

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.